Genomes and Genes
congenital limb deformities
Summary: Congenital structural deformities of the upper and lower extremities collectively or unspecified.
Publications151 found, 100 shown here
- Daughter and her mildly affected father with Keipert syndromeMiroslav Dumic
Department of Pediatrics, University Hospital Rebro, Zagreb, Croatia
Am J Med Genet A 140:2488-92. 2006..The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance...
- p63 is essential for regenerative proliferation in limb, craniofacial and epithelial developmentA Yang
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
Nature 398:714-8. 1999..Taken together, our results indicate that p63 is critical for maintaining the progenitor-cell populations that are necessary to sustain epithelial development and morphogenesis...
- TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealedAlessandro D Mori
Program in Cardiovascular Research, Hospital for Sick Children, University of Toronto, Toronto, Canada
Curr Opin Cardiol 19:211-5. 2004..This review summarizes recent developments in the study of TBX5 as it relates to congenital heart disease and the pathology of HOS...
- A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactylyFrances R Goodman
Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
Am J Hum Genet 70:547-55. 2002..They also suggest that there is a regulatory region, upstream of the HOXD cluster, that is responsible for activating the cluster as a whole...
- Multiple roles of mesenchymal beta-catenin during murine limb patterningTheo P Hill
Research Institute of Molecular Pathology, IMP, Dr Bohr Gasse 7, A 1030 Vienna, Austria
Development 133:1219-29. 2006..Mesenchymal beta-catenin activity is therefore required for AER maintenance, and for normal expression of Lmx1b and Emx2...
- Feingold syndrome: clinical review and genetic mappingJacopo Celli
University Medical Center Nijmegen, Department of Human Genetics, Nijmegen, The Netherlands
Am J Med Genet A 122:294-300. 2003....
- p63-associated disordersTuula Rinne
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Cell Cycle 6:262-8. 2007..In this article we will present an overview of diseases caused by mutations in the p63 gene and review the known pathogenic p63 gene mutations...
- Mouse model of split hand/foot malformation type IGiorgio R Merlo
Telethon Laboratory CBA, Dulbecco Telethon Medical Institute DTMI, Genova, Italy
Genesis 33:97-101. 2002..This is the first evidence that the role of dll/Dlx genes in appendage development is conserved from insects to mammals and proves their involvement in SHFM1...
- Pre- and postnatal diagnosis of limb anomalies: a series of 107 casesMuriel Holder-Espinasse
Service de Genetique Medicale, Hopital Jeanne de Flandre, CHRU, 59037 Lille Cedex, France
Am J Med Genet A 124:417-22. 2004..We are currently undertaking a prospective study, and we will develop a protocol of investigations in the future, depending on the type of the malformation identified...
- Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defectsNadia Lo Iacono
Dulbecco Telethon Institute, Molecular Biotechnology Center, University of Torino, Via Nizza 52, Torino, 10126, Italy
Development 135:1377-88. 2008..ChIP analysis shows that p63 is directly associated with the Dlx5 and Dlx6 promoters. Thus, our data strongly implicate p63 and the Dlx5-Dlx6 locus in a pathway relevant in the aetio-pathogenesis of SHFM...
- An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of functionGiuliana Caronia
Department of Molecular Biology and Functional Genomics, DIBIT H San Raffaele, Via Olgettina 58, 20132 Milano, Italy
Development 130:1701-12. 2003....
- Cell death in normal and abnormal developmentPhilip E Mirkes
Department of Veterinary Physiology and Pharmacology, Texas A and M University, College Station, Texas 77843, USA
Congenit Anom (Kyoto) 48:7-17. 2008..Therefore, the purpose of this review is to highlight what is known about PCD and teratogen-induced cell death and their relationships to the mechanisms of apoptosis and abnormal development...
- Arachnomelia in four Italian brown calvesS Testoni
Department of Clinical Veterinary Science, University of Padua, via dell Università 16, 35020 Legnaro Padova, Italy
Vet Rec 155:372. 2004
- Hoxd-12 differentially affects preaxial and postaxial chondrogenic branches in the limb and regulates Sonic hedgehog in a positive feedback loopV Knezevic
Laboratory of Pathology, NCI, NICHD, National Institutes of Health, Bethesda, MD 20892, USA
Development 124:4523-36. 1997..Together these results suggest that certain 5' Hoxd genes directly amplify the posterior Shh polarizing signal in a reinforcing positive feedback loop during limb bud outgrowth...
- Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotypeIngrid Van de Laar
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
Am J Med Genet A 143:2712-5. 2007..The present observations provide further support to this hypothesis...
- The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndromeK R Johnson
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
Mamm Genome 9:889-92. 1998..The genetic relationships described here will aid in positional cloning efforts to identify the genes responsible for the disparate phenotypes associated with the sy locus...
- Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD clusterM Del Campo
Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA
Am J Hum Genet 65:104-10. 1999....
- Influence of FGF4 on digit morphogenesis during limb development in the mouseV Ngo-Muller
Department of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana, 70118, USA
Dev Biol 219:224-36. 2000..Finally, we discuss the relationship between the digit IV bifurcation restriction and the placement of the metapterygial axis in the evolution of the tetrapod limb...
- Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3Dominic Furniss
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
Am J Med Genet A 143:3150-60. 2007..c) 2007 Wiley-Liss, Inc...
- Amphibian deformities and Ribeiroia infection: an emerging helminthiasisPieter T J Johnson
Center for Limnology, University of Wisconsin, 680 North Park Street, Madison, WI 53706 1492, USA
Trends Parasitol 19:332-5. 2003..pesticides, nutrient run-off, introduced fishes) might be interacting with Ribeiroia, resulting in elevated infection levels, and we highlight the need for studies incorporating multiple stressor dynamics to further explore this problem...
- Orofacial manifestations of Robinow's syndrome: a case report in a pediatric patientDaniella Ferraz Cerqueira
Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 105:353-7. 2008....
- Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autismIgor Splawski
Department of Cardiology, Children s Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
Cell 119:19-31. 2004..These discoveries establish the importance of Ca(V)1.2 in human physiology and development and implicate Ca(2+) signaling in autism...
- Fryns syndrome: a case associated with karyotype XONader M H Dawani
Salmaniya Medical Complex, Manama, Bahrain
Ann Saudi Med 24:129-32. 2004
- Fraser-cryptophthalmos syndrome with colonic atresiaManish Narang
Department of Pediatrics, University College of Medical Sciences and Guru Tegh Bahadur Hospital, Dilshad Garden, Delhi, India
Indian J Pediatr 75:189-91. 2008..Gastrointestinal malformations are also increasingly being described. We describe a neonate with this syndrome having colonic atresia leading to cecal rupture and pneumoperitoneum...
- TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed heartsStella Marie Reamon-Buettner
Drug Research and Medical Biotechnology, Fraunhofer Institute of Toxicology and Experimental Medicine, D 30625 Hannover, Germany
Hum Mutat 24:104. 2004..We show for the first time TBX5 mutations in non-HOS associated cardiac malformations and we identified a novel missense mutation that would impact nuclear localization of TBX5...
- Biochemical diagnosis of Antley-Bixler syndrome by steroid analysisCedric Shackleton
Children s Hospital Oakland Research Institute, Oakland, California 94609, USA
Am J Med Genet A 128:223-31. 2004..This paper proposes use of the distinctive steroid metabolome as the primary biochemical parameter for diagnosis of ABS, at least the form not associated with FGFR2 mutations...
- A case of Fryns syndrome without diaphragmatic hernia and review of the literaturePradeep C Vasudevan
Department of Clinical Genetics, Sheffield Children s Hospital, Sheffield, UK
Clin Dysmorphol 13:179-82. 2004..However, diaphragmatic hernia, which is considered a cardinal feature in this condition, was absent in our patient. The parents were consanguineous supporting autosomal recessive inheritance...
- Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndromeMelih A Guven
Department of Obstetrics and Gynecology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, and Department of Genetics, Zekai Tahir Burak Women s Health Education and Research Hospital, Ankara, Turkey
Fetal Diagn Ther 21:386-9. 2006..Our aim was to present a prenatally diagnosed case with Robinow syndrome in a consanguineous couple and discuss possible differential diagnosis in view of the literature...
- The fifth female patient with Myhre syndrome: further delineationLuis E Becerra-Solano
Genetics Division, Biomedical Research Center of the West Mexican Social Security Institute, Guadalajara, Mexico
Clin Dysmorphol 17:113-7. 2008..The physical habitus of MS is described and a square body shape is clearly distinguished in all cases. As the typical muscular build is present mainly in male patients, the MS muscular appearance may be hormonally influenced...
- Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature reviewMelanie A Manning
Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
Am J Med Genet A 125:240-9. 2004..Data from these patients suggest that the NLS represents a heterogeneous phenotype. Prenatal ultrasound findings of marked ocular proptosis in a growth restricted, edematous fetus should prompt consideration of a diagnosis of the NLS...
- Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndromeS Kantarci
Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
Am J Med Genet A 140:17-23. 2006..12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH...
- An infant with pentalogy of Cantrell and limb defects diagnosed prenatallyDilek Uygur
Clin Dysmorphol 13:57-8. 2004..There were several associated limb defects. We discuss the differential diagnosis and conclude that our case probably had a variant form of this syndrome...
- Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: previously unrecognized autosomal recessive syndromeZuhair N Al-Hassnan
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Am J Med Genet A 143:521-7. 2007..The craniofacial manifestations in these two patients do not match any of the syndromes known to be associated with HRS. We consider that the constellation is unique and apparently represents a previously unrecognized syndrome...
- A rare cause of polyhydramnios: Neu-Laxova syndromeAlicia Martin
Gynaecology and Obstetrics Department, University Hospital Materno Infantil of the Canaries, Las Palmas de Gran Canaria, Canary Islands, Spain
J Matern Fetal Neonatal Med 19:439-42. 2006....
- Anesthesia for cesarean section in a patient with Holt-Oram syndromeA Ioscovich
Departments of Anesthesia, Sunnybrook Health Sciences Center at Women s College Hospital and the University of Toronto, Canada
Int J Obstet Anesth 16:86-8. 2007..Cardiac monitoring was continued in the postoperative period for 6 h because of the possibility of dysrhythmia...
- Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?Jose Elias Garcia-Ortiz
Divisions of Genetics, University of Guadalajara Guadalajara, Mexico
Clin Dysmorphol 16:15-20. 2007..Comparison with other cardiomelic syndromes previously described in the literature lead us to conclude that this is a new faciocardiomelic syndrome probably inherited as an autosomal recessive trait...
- The versatile RECQL4Richard Kellermayer
Department of Medical Genetics and Child Development, University of Pecs, Hungary
Genet Med 8:213-6. 2006..Consequently, it is especially difficult to draw precise genotype-phenotype correlations in RECQL4 related syndromes. This is likely due to the complex and multiple cellular networks RECQL4 is associated with...
- Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case reportLaurence Fayol
Faculte de Medecine, Universite de la Mediterranee, Assistance Publique Hôpitaux de Marseille Hôpital de La Conception, Département de néonatologie, 147 Boulevard Baille, 13 385 Marseille Cedex 05, France
Am J Perinatol 23:197-200. 2006..Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes. This observation further supports the current understanding of the physiopathology of AOS...
- Robinow syndrome: report of two cases and review of the literatureA Al Kaissi
Department of Paediatric Orthopaedics, Children s Hospital Tunis, Tunsia
Australas Radiol 51:83-6. 2007..The radiographic differential diagnosis of Robinow syndrome is discussed...
- Clinical characterization of autosomal dominant and recessive variants of Robinow syndromeJuliana Forte Mazzeu
Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Brazil
Am J Med Genet A 143:320-5. 2007..Umbilical hernia (32.3%) and supernumerary teeth (10.3%) were found exclusively in patients with the dominant form...
- Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)Ph Debeer
Department of Orthopaedics, University Hospital Pellenberg, Weligerveld 1, B 3212 Pellenberg, Belgium
Eur J Med Genet 48:377-87. 2005..We identified three novel and one previously described GJA1 mutation in two large ODDD families and two sporadic ODDD cases...
- Early ultrasonographic changes in Fowler syndrome features and review of the literatureIhab M Usta
Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon
Prenat Diagn 25:1019-23. 2005..The natural progression of the ultrasonographic features of Fowler syndrome has never been described...
- Early fetal akinesia deformation sequence: a case report with unusual autoptic featuresGiovanna Giordano
Department of Pathology and Medicine of Laboratory, Section of Pathological Anatomy and Histology, Medical School of Parma University, Italy
J Matern Fetal Neonatal Med 17:349-52. 2005..We, moreover believe that the paucity of spinal motoneurons could be due to the anomalies of programmed death during fetal development and the consequence of genetic defects...
- Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generationsR G Rodrigues
Reston Pediatric Associates, Department of Pediatrics, VA 20165, USA
Clin Genet 71:558-60. 2007..The clinical findings in these patients are delineated and compared to patients with other forms of ectodermal dysplasia in the literature...
- SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotypeElke M Botzenhart
Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
Hum Mutat 26:282. 2005....
- Oromandibular limb hypogenesis syndrome, type IIA, hypoglossia-hypodactylia: a case reportPuneet Wadhwani
Saraswati Dental College, Oral and Maxillofacial Surgery, Lucknow, Uttar Pradesh, India
J Oral Pathol Med 36:555-7. 2007..Parents and the other sibling were normal. Past medical history for exposure of the mother to drugs during pregnancy was positive...
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literatureTuenjai Chuangsuwanich
Department of Pathology, Siriraj Hospital Faculty of Medicine, Mahidol University, Bangkok, Thailand
Prenat Diagn 25:210-5. 2005..To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography...
- Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditionsJoseph R Siebert
Department of Laboratories, Children s Hospital and Regional Medical Center, Seattle, Washington 98105, USA
Am J Med Genet A 134:381-92. 2005..The phenotypic heterogeneity inherent in these patients continues to complicate diagnosis, which will hopefully be simplified by continuing delineation at morphologic and especially genetic levels...
- Rhizomelia with anal atresia and anophthalmia: a new syndrome?Giray Ozlem
Department of Pediatrics, Division of Genetics, DEU Genetic Diagnosis Center, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
Clin Dysmorphol 17:53-6. 2008..Clinical and postmortem findings did not match any previously described syndromes with the type of anomalies seen in this patient. We suggested that this combination of congenital malformations might represent a new syndrome...
- A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndromeKatrin Ounap
Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu, Estonia
Am J Med Genet A 134:434-8. 2005..Our findings lend support to distal chromosome 3q, or chromosome 3q26.3, comprises the critical area for the dup(3q) phenotype resembling the BDLS...
- Mermaid syndrome with amniotic band disruptionSanjeev Managoli
Department of Pediatrics, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India
Indian J Pediatr 70:105-7. 2003..The single umbilical artery had a high origin, arising directly from the aorta just distal to the celiac axis, which is unique to sirenomelia. Theories put forward regarding the etiopathogenesis of both the conditions are discussed...
- Congenital varicella syndromeC K Sasidharan
Department of Pediatrics and Neonatology, Institute of Maternal and Child Health, Medical College, Calicut, Kerala
Indian J Pediatr 70:101-3. 2003..The unusual features in this baby are bilateral hypoplastic lower extremities, fracture of bones, a normal electroencephalogram and phantom hernias of the anterior abdominal wall...
- Antley-Bixler syndrome: correction of facial deformities and long-term survivalJames P Bradley
Division of Plastic and Reconstructive Surgery, University of Pittsburgh, PA, USA
Plast Reconstr Surg 111:1454-60. 2003
- Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndromeH van Bokhoven
Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Nat Genet 25:423-6. 2000..The ROR2 mutations present in RRS result in premature stop codons and predict nonfunctional proteins...
- A novel acropectoral syndrome maps to chromosome 7q36M Dundar
Departments of Medical Genetics, Plastic and Reconstructive Surgery, and Thoracic Surgery, Erciyes University Medical Faculty, 38039 Kayseri, Turkey
J Med Genet 38:304-9. 2001..A recently proposed candidate gene for 7q36 linked preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor which may be an upstream regulator of SHH...
- Second trimester diagnosis of Neu Laxova syndromeM A Shivarajan
Department of Clinical Genetics and Dysmorphology, Mediscan Prenatal Diagnosis and Fetal Therapy Centre, Royapettah, Chennai, India
Prenat Diagn 23:21-4. 2003..Review of the literature on NLS and possibility of detecting the syndrome in the second trimester is discussed...
- Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndromeT K Ghosh
Institute of Genetics, University of Nottingham, Queen s Medical Centre, Nottingham NG7 2UH, UK
Hum Mol Genet 10:1983-94. 2001..5. Cell transfection studies demonstrate that TBX5 activates the transcription of an atrial natriuretic factor reporter construct and this effect is significantly reduced by deletion of the TBX5 binding site...
- Prenatal sonographic diagnosis of Neu-Laxova syndromeA N Khan
MINAR, Nishtar Hospital, Multan, Pakistan
J Clin Ultrasound 29:531-4. 2001....
- VACTERL-H syndromeThomas E Herman
Department of Radiology, Washington University School of Medicine, St Louis Children s Hospital, 510 South Kingshighway Boulevard, St Louis, MO 63110, USA
J Perinatol 22:496-8. 2002
- Tail gut endoderm and gut/genitourinary/tail development: a new tissue-specific role for Hoxa13Pascal de Santa Barbara
Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
Development 129:551-61. 2002..We suggest a fundamental role for epithelial specific expression of Hoxa13 in the epithelial-mesenchymal interaction necessary for tail growth and posterior GGU patterning...
- Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial cleftsL L Barrow
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
J Med Genet 39:559-66. 2002..This study supports a common role for p63 in classical EEC syndrome, both familial and sporadic, but not in other related or non-syndromic forms of orofacial clefts...
- Prenatal diagnosis of acrania associated with facial defects, amniotic bands and limb-body wall complexC P Chen
Ultrasound Obstet Gynecol 20:94-5. 2002
- Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai familyPiranit N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Am J Med Genet 108:275-80. 2002..Fluorescence in situ hybridization analysis revealed no visible deletion at a 1q32-41 region...
- Novel TBX5 mutations and molecular mechanism for Holt-Oram syndromeC Fan
Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
J Med Genet 40:e29. 2003
- Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndromeTodd G Davenport
Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, 701 W 168th Street, New York, NY 10032, USA
Development 130:2263-73. 2003....
- Splenogonadal fusion-limb defect "syndrome" and associated malformationsFiona McPherson
Department of Pathology, Tampa General Hospital, Tampa, Florida 33601, USA
Am J Med Genet A 120:518-22. 2003..We consider SGFLD a developmental field defect that originates during blastogenesis. Although the cause is unknown, the earlier its action, the more severe the involvement resulting in SGFLD; later action may result only in SGF...
- First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literatureSiobhan M Dolan
Division of Reproductive Genetics, Department of Obstetrics and Gynecology and Women s Health, Albert Einstein College of Medicine and Montefiore Medical Center, 1635 Poplar Street, 2nd Floor, Bronx, NY 10461, USA
Prenat Diagn 23:138-42. 2003..We describe a fourth surviving patient and what we believe to be the first prenatal diagnosis of BPS in the first trimester...
- One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type BAli R Afzal
Medical Genetics Unit, St George s Hospital Medical School, London, UK
Hum Mutat 22:1-11. 2003..This condition is characterized by terminal deficiency of fingers and toes. A variety of mutations have been reported in ROR2. Here, these genetic defects are compiled and possible genotype-phenotype correlations are discussed...
- Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndromeMillan S Patel
Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet A 129:294-9. 2004..These findings suggest a unifying pathogenic mechanism for the abnormalities seen in AOS. These and previously reported cases establish that a subset of AOS patients is at high risk for PH...
- Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypesP D Si Dong
Department of Anatomy, University of Wisconsin, Madison, WI 53706, USA
Proc Natl Acad Sci U S A 100:10293-8. 2003..Electrophysiological analyses confirm that spalt/spalt-related mutant flies are deaf. These commonalities suggest that there is functional conservation for spalt genes between vertebrates and insects...
- Mutation watch: mouse brachyury (T), the T-box gene family, and human diseaseM H Meisler
Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
Mamm Genome 8:799-800. 1997
- Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL geneMarybeth Hummel
Department of Pediatrics, West Virginia University School of Medicine, Morgantown, WV, USA
Am J Med Genet A 122:246-51. 2003..This result demonstrates that both right- and left-sided CHILD syndrome can be caused by mutations in the same gene...
- Transient bradycardia in a mouse model for the oromandibulofacial limb hypogenesis syndrome following chorionic villus samplingH H Chang
Department of Anatomy, University Medical School, Edinburgh, UK
J Hand Surg Br 22:243-9. 1997..We discuss why the incidence of oromandibulofacial limb hypogenesis syndrome is low following chorionic villus sampling, and propose a possible aetiology for the limb abnormalities seen in this condition...
- A comprehensive analysis of 22q11 gene expression in the developing and adult brainT M Maynard
Neurodevelopmental Disorders Research Center, Silvio O Conte Center for the Neuroscience of Mental Disorders, Department of Cell and Molecular Physiology, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
Proc Natl Acad Sci U S A 100:14433-8. 2003..Thus, 22q11 deletion may disrupt expression of multiple genes during development and maturation of neurons and circuits compromised by cognitive and psychiatric disorders associated with VCFS...
- [Anesthesia and fibrobronchoscopy for the study of chronic stridor in a boy with Robinow syndrome]C Cassinello Ogea
Servicio de Anestesiologia, Reanimacion y Terapeutica del Dolor, Hospital Universitario Miguel Servet, Zaragoza
Rev Esp Anestesiol Reanim 50:101-5. 2003..We discuss the relation between the facial dysmorphia characteristic of this syndrome and the possibility of finding a difficult airway, as well as the diagnosis and treatment of intrathoracic tracheomalacia during anesthesia...
- Magnetic resonance angiography in clubfoot and vertical talus: a feasibility studyLisa Kruse
Department of Orthopedic Surgery, Washington University School of Medicine, One Children s Place, Suite 4S60, St Louis, MO 63110, USA
Clin Orthop Relat Res 467:1250-5. 2009Congenital vascular alterations of the normal adult arterial pattern have been associated with multiple congenital limb deformities including clubfoot and vertical talus...
- Two cases of feline ectromelia: autopodium ectromelia associated with humero-ulnar synostosis and zeugopodium ectromeliaFrancesco Macri
Department of Veterinary Public Health, Faculty of Veterinary Medicine, University of Messina, Viale Annunziata, 98168 Messina, Italy
J Feline Med Surg 11:731-4. 2009b>Congenital limb deformities are rarely reported in cats. This paper describes the radiographic findings of congenital forelimb malformations in two cats...
- Amputation surgery in children: an analysis of frequency and cause of early wound problemsL N Banza
Department of Surgery, Beit Cure International Hospital, POB 31236, Blantyre 3, Blantyre 265, Malawi
Trop Doct 39:129-32. 2009..The most frequent indications for amputation were congenital limb deformities (60%). Trauma, tumours, infection and other rare conditions were less common...
- Congenital radial and thumb aplasia in a neonatal owl monkey (Aotus nancymaae)Anne Michele Schuler
The Center for Neotropical Primate Research and Resources CNPRR, University of South Alabama, Mobile, AL, USA
J Am Assoc Lab Anim Sci 46:72-4. 2007This report describes congenital radial and thumb aplasia in a neonatal owl monkey. Congenital limb deformities in human neonates and Old World primate species have been well characterized...
- The clinical use of platelet-rich plasma in the promotion of bone healing: a systematic reviewX L Griffin
Warwick Orthopaedics, Clinical Sciences Research Institute, University Hospital Coventry and Warwickshire, Department of Trauma and Orthopaedics, Clifford Bridge Road, Coventry CV2 2DX, UK
Injury 40:158-62. 2009..Three studies exclusively concerned children, and included those with congenital limb deformities. Two other reports were case series...
- Mutant CHUK and severe fetal encasement malformationJenni Lahtela
National Institute for Health and Welfare, Public Health Genomics Unit, Helsinki University Hospital, Helsinki, Finland
N Engl J Med 363:1631-7. 2010..CHUK has an essential role in the development of skin epidermis and its derivatives, along with various other morphogenetic events. (Funded by the Academy of Finland and others.)...
- Extracellular signal-regulated kinase 1 (ERK1) and ERK2 play essential roles in osteoblast differentiation and in supporting osteoclastogenesisTakehiko Matsushita
Department of Orthopaedics, Case Western Reserve University, 2109 Adelbert Road, BRB 329, Cleveland, OH 44106, USA
Mol Cell Biol 29:5843-57. 2009..Thus, our results indicate that ERK1 and ERK2 not only play essential roles in the lineage specification of osteo-chondroprogenitor cells but also support osteoclast formation in vivo...
- Childhood hypertension in autosomal-dominant hypertension with brachydactylyOkan Toka
Children s Hospital, Department of Pediatric Cardiology, Friedrich Alexander University, Erlangen, Germany
Hypertension 56:988-94. 2010..Once the diagnosis is made, we recommend treatment of all individuals with stage 2 hypertension according to the current European and US guidelines on hypertension in children and adolescents...
- SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genesSusan M Kiefer
Research and Education Service Line, St Louis Veterans Administration Medical Center, U S Department of Veterans Affairs, St Louis, Missouri 63106, USA
Hum Mutat 29:1133-40. 2008..We propose a model for the pathogenesis of TBS in which truncated Sall1 protein causes derepression of Sall-responsive target genes...
- Report of a girl with vacterl syndrome and right pulmonary agenesisS Avcu
Department of Radiology, University of Yuziancl Yil, School of Medicine, Van, Turkey
Genet Couns 20:379-83. 2009..In the present patient right pulmonary agenesis is co-occurring with VACTERL syndrome. We report on this case because the association of right pulmonary agenesis and VACTERL syndrome is rare...
- Clinical features and teratogenic mechanisms of congenital absence of digitsToshihiko Ogino
Department of Orthopaedic Surgery, Yamagata University School of Medicine, Iida nishi 2 2 2, Yamagata 990 9585, Japan
Dev Growth Differ 49:523-31. 2007..Congenital constriction ring syndrome appears after the formation of the digital rays...
- Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL associationMarco Castori
Medical Genetics, Experimental Medicine Department, Sapienza University of Rome, S Camillo Forlanini Hospital, Rome, Italy
Am J Med Genet A 146:1259-66. 2008..Careful search of lower limb anomalies of the "tibial type" is, therefore, indicated in all patients with multiple polytopic developmental field defects...
- Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?S Ben-Shachar
Department of Molecular and Human Genetic, Baylor College of Medicine, Houston, TX 77030, USA
Clin Genet 75:394-400. 2009..Indeed, NMD may explain distinct phenotypes and different inheritance patterns conveyed by allelic truncating mutations enabling better genotype-phenotype correlations in several other disorders...
- A mutation in Ihh that causes digit abnormalities alters its signalling capacity and rangeBo Gao
Department of Biochemistry, The University of Hong Kong, Hong Kong, China
Nature 458:1196-200. 2009..Furthermore, we show that in a mouse model that recapitulates the E95K mutation, there is a change in the potency and range of signalling. The mice have digit abnormalities consistent with the human disorder...
- Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2Eissa Faqeih
Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
Am J Med Genet A 149:461-5. 2009..These observations suggest that mutations in this region of the collagen type I alpha 2 chain carry a high risk of abnormal limb development and intracranial bleeding...
- A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approachKarolina Anna Siwicka
Department of Hand Surgery, Medical University of Gdansk, Gdansk, Poland
J Pediatr Orthop B 17:271-6. 2008....
- Diprosopus with multiple craniofacial, musculoskeletal, and cardiac defects in a purebred Suffolk lambNancy J Kerr
Atlantic Veterinary College, University of Prince Edward Island, 550 University Avenue, Charlottetown, Prince Edward Island
Can Vet J 48:1074-6. 2007..The lamb was born twin to a normal lamb. No definitive etiology was established...
- Adriamycin produces a reproducible teratogenic model of vertebral, anal, cardiovascular, tracheal, esophageal, renal, and limb anomalies in the mouseMichael J Dawrant
Department of Paediatric Surgery, National Children s Hospital, Tallaght, Dublin 24, Ireland
J Pediatr Surg 42:1652-8. 2007....
- Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant miceMasaya Ikegawa
Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan
Dev Dyn 237:2506-17. 2008..Although joint formation was not disrupted, chondrocyte maturation was preaxially disturbed. Our results suggest that the Sfrp2 deleted mice can be a useful animal model to study human syndactyly/preaxial synpolydactyly defects...
- A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?Tiong Yang Tan
Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
Clin Dysmorphol 16:271-3. 2007..We propose that this patient represents a more severe form of MURCS, or 'MURCS-plus', which may represent a defect of or insult to mesodermal morphogenesis...
- The short toes mutation of the axolotlKazuna Sato
The Indiana University Center for Regenerative Biology and Medicine, Department of Biology, Indiana University Purdue University Indianapolis IUPUI, Indianapolis, Indiana 46202 5132, USA
Dev Growth Differ 49:469-78. 2007..Histological experiments confirm that severe s/s has lost most skeletal muscle and myosin. These results suggest that skeletal muscle, which includes satellite cells, could play an important role in axolotl limb regeneration...
- Zebrafish short fin mutations in connexin43 lead to aberrant gap junctional intercellular communicationAngela D Hoptak-Solga
Lehigh University, Department of Biological Sciences, Iacocca B 217, Bethlehem, PA 18015, USA
FEBS Lett 581:3297-302. 2007..Therefore, measurable differences in Cx43 function may be correlated with the severity of defects in bone length...
- [Atypical course in Stickler syndrome]J B Koehler
Orthopädische Klinik und Poliklinik, Ludwig Maximilians Universitat Munchen, Klinikum Grosshadern, Munchen
Z Orthop Unfall 145:511-3. 2007..It has a very low incidence and a rare association with hip disease. Usually the patients suffer from hypermobility. In our case the course was atypical and diagnosis delayed...
- Fryns syndrome with Hirschsprung disease: support for possible neural crest involvementFowzan S Alkuraya
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, MA 02130, USA
Am J Med Genet A 132:226-30. 2005..We suspect that the clinical observation about Hirschsprung disease and Fryns syndrome may provide insight into its molecular mechanisms and candidate genes...
- Genetic evidence that formins function within the nucleusD C Chan
Department of Genetics, Harvard Medical School, and Howard Hughes Medical Institute, Boston, Massachusetts 02115, USA
J Biol Chem 271:23472-7. 1996..These observations define a small region in the carboxyl terminus that is required for nuclear localization and suggest that nuclear localization plays a role in formin action...
- Asymmetrical terminal limb defects in a hydropic infant with homozygous alpha-thalassemia-1Chih Ping Chen
Prenat Diagn 25:178-9. 2005
- LABORATORY OF DEVELOPMENTAL BIOLOGYALAN FANTEL; Fiscal Year: 2007..Additionally, the efficiency and expertise of the experienced staff enables the Laboratory to maximize the samples retrieved from each specimen. ..
- IMMUNE PROTECTION AGAINST MNU-INDUCTED DIGITAL DEFECTSMARY PRATER; Fiscal Year: 2006..This research under the guidance of Drs. Steven Holladay and Eric Wong at Virginia Tech...
- Student and Postdoctoral Travel Awards for the 2006 MeetingMichael Collins; Fiscal Year: 2006..this proposal, the investigators are requesting funds to defray part of the cost of travel awards, which will be granted to students and postdoctoral fellows presenting their research finding at the 2006 Teratology Society Annual Meeting ..
- Teratology Society 47th Annual Meeting: Student and Postdoctoral Travel AwardsMichael Collins; Fiscal Year: 2007....
- Cadmium Teratogenesis to murine strains proteomicsMichael Collins; Fiscal Year: 2003..abstract_text> ..
- 2005 Teratology Society MeetingMichael Collins; Fiscal Year: 2005..Funds to help support and encourage student-fellow attendance at the Teratology Society 2005 Annual Meeting will enhance the quality of the meeting and the experience of the student and postdoctoral fellow attendees. ..
- Murine strain sensitivity to cadmium teratogenesisMichael Collins; Fiscal Year: 2005..An additive oligogenic model involving nine genes for the induction of the forelimb defect has been proposed. ..
- The ProPhylER Database and Web ResourceArend Sidow; Fiscal Year: 2006....
- Genetic analysis of ovary development and oogenesisMary Mullins; Fiscal Year: 2007..Identification of the mutant zebrafish genes will provide candidate genes responsible for the human defects, which could ultimately lead to genetic testing or therapeutic intervention. ..
- Center for Rural and Environmental HealthStephen Safe; Fiscal Year: 2006..A Community Outreach and Educational Program provides a mechanism for dissemination of important research findings of CERH investigators to rural communities, especially in the Lower Rio Grande Valley. ..
- The Ciona savignyi Genetic MapArend Sidow; Fiscal Year: 2007..Insights into the molecular mechanisms of regulation and development using Ciona as a model are highly effective and relevant to the homologous processes in human. ..
- Genetic Analysis of Maternal Factors in Embryonic Devel*Mary Mullins; Fiscal Year: 2005..These studies will be relevant to the nature of human sterilities, birth defects, and human inherited disorders. ..
- Molecular Mechanisms of Alcohol Related Birth DefectsShao Yu Chen; Fiscal Year: 2007..This study is expected to provide important new data relative to molecular mechanisms of alcohol-related birth defects. ..
- Genetic analysis of male gonadal developmentMary C Mullins; Fiscal Year: 2010..Identification of the genes responsible for these defects in the zebrafish will provide candidate genes responsible for the human defects, which could ultimately lead to genetic testing or therapeutic intervention. ..
- DORSAL-VENTRAL PATTERN FORMATION IN THE ZEBRAFISH EMBRYOMary C Mullins; Fiscal Year: 2010....
- Study on the intracellular Network of TBX3Taosheng Huang; Fiscal Year: 2010..Elucidation of the TBX3- HDAC interaction will deepen our understanding of the functions of TBX3 and may also lead to the identification of a novel therapeutic target for breast cancer. ..
- Genetic analysis of ovary development and oogenesisMary Mullins; Fiscal Year: 2009..Identification of the mutant zebrafish genes will provide candidate genes responsible for the human defects, which could ultimately lead to genetic testing or therapeutic intervention. ..
- DORSAL-VENTRAL PATTERN FORMATION IN THE ZEBRAFISH EMBRYOMary Mullins; Fiscal Year: 2007..Thus it is critical to identify and study all the genetic players in this process. ..
- Genetic Studies of Optic AtrophyTaosheng Huang; Fiscal Year: 2010..This study will allow us to understand how mutations of OPA1 cause optic atrophy and explore its novel function in lifespan and provide us a potential opportunity to develop treatments for the disease. ..
- Risk Factors for Psychosis in Chromosome 22q11 Deletion SyndromeVandana Shashi; Fiscal Year: 2007..2 region in children with 22q11 DS, a genetic condition with a high risk of schizophrenia, to understand the factors that play a role in this severe mental illness. ..
- Study on the intracellular Network of TBX3Taosheng Huang; Fiscal Year: 2010..Elucidation of the TBX3- HDAC interaction will deepen our understanding of the functions of TBX3 and may also lead to the identification of a novel therapeutic target for breast cancer. ..
- GENETIC ANALYSIS OF EARLY LIMB DEVELOPMENTArend Sidow; Fiscal Year: 2004..Because Dac is likely to be the mouse ortholog of the human Split Hand/Foot Malformation 3 gene, this project may also bear direct relevance to understanding and diagnosis of congenital limb diseases. ..
- Insight from Lamprey Genome: Structure-Function studies of Novel GnRH ReceptorsSTACIA SOWER; Fiscal Year: 2007..Studying the lamprey genome is a touchstone for understanding genes that arose in the vertebrates and offers an innovative approach to therapeutic research. ..
- DORSAL-VENTRAL PATTERN FORMATION IN THE ZEBRAFISH EMBRYOMary Mullins; Fiscal Year: 2003....
- 70 KD HSPS--MODULATORS OF DEVELOPMENTAL TOXICITYPhilip Mirkes; Fiscal Year: 2000..In the work proposed the developmental toxicants will be hyperthermia and cyclophosphamide. ..
- A PROTEOMIC APPROACH TO THE INDENTIFICATION OF PROTEINS*Philip Mirkes; Fiscal Year: 2003..5. This comparison will be accomplished using a newly-developed systematic approach to the analysis of protein phosphorylation in complex protein mixtures. ..
- 70 KD HSPS- MODULATORS OF DEVELOPMENTAL TOXICITYPhilip Mirkes; Fiscal Year: 2004..Results expected from the above studies will provide mechanistic data that could lead to intervention strategies designed to decrease the frequency and/or severity of birth defects caused by developmental toxicants...
- GDF Modulation of Tendon Maintenance and RepairBorjana Mikic; Fiscal Year: 2007..These studies combine to enhance our understanding of the mechanisms of action of GDFs in tendon maintenance and repair. ..
- GDF REGULATION OF ENDOCHONDRAL BONE GROWTHBorjana Mikic; Fiscal Year: 2002....
- BCL-2, ROS, AND CELL DEATH IN DEVELOPMENTAL TOXICITYPhilip Mirkes; Fiscal Year: 2002....
- 2002 TERATOLOGY SOCIETY MEETING: TRAVEL SUPPORTPhilip Mirkes; Fiscal Year: 2002..Funds to help support and encourage student attendance at the Teratology Society 2002 meeting will enhance the quality of the meeting and the experience of the student attendees. ..