Genomes and Genes
Summary: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Publications253 found, 100 shown here
- The acrofacial dysostoses--a wide spectrum of overlapping phenotypesB Dimitrov
Genet Couns 16:181-6. 2005
- Mowat-Wilson syndrome affecting 3 siblingsMotoko Ohtsuka
Department of Pediatrics, Tokyo Women s Medical University, 8 1 Kawada cho, Shinjuku ku, Tokyo
J Child Neurol 23:274-8. 2008..Because Mowat-Wilson syndrome has been caused by de novo mutation in ZFHX1B, germ-line mosaicism should be considered if recurrence in siblings is observed...
- Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizuresGaelle Thierry
CHU Nantes, Service de Genetique Medicale, Nantes, France
Am J Med Genet A 158:1633-40. 2012..These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for ID and seizures...
- Cardio-facio-cutaneous syndrome: does genotype predict phenotype?Judith E Allanson
Department of Genetics at Children s Hospital of Eastern Ontario
Am J Med Genet C Semin Med Genet 157:129-35. 2011..Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype–phenotype correlation, being more common in individuals with a BRAF mutation...
- Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effectsMari Sepp
Department of Gene Technology, Tallinn University of Technology, Akadeemia tee 15, Tallinn, Estonia
Hum Mol Genet 21:2873-88. 2012..We conclude that different PTHS-associated mutations impair the functions of TCF4 by diverse mechanisms and to a varying extent, possibly contributing to the phenotypic variability of PTHS patients...
- Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndromeLina Basel-Vanagaite
Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel
Am J Hum Genet 91:998-1010. 2012..Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals...
- Identification of the DNA repair defects in a case of Dubowitz syndromeJingyin Yue
The Cancer Institute of New Jersey, Robert Wood Johnson Medical School, New Brunswick, New Jersey, United States of America
PLoS ONE 8:e54389. 2013..These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations...
- Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown
Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK
Oncotarget 2:1127-33. 2011..Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth...
- Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt
Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium
Nat Genet 44:445-9, S1. 2012..These alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity. The identification of SMARCA2 mutations in humans provides insight into the function of the Snf2 helicase family...
- Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndromeRoksana Armani
NSW Centre for Rett Syndrome Research, Kids Research Institute, The Children s Hospital at Westmead, Sydney, NSW, Australia
Am J Med Genet A 158:713-9. 2012....
- Development, cognition, and behaviour in Pitt-Hopkins syndromeIngrid D C van Balkom
Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, The Netherlands
Dev Med Child Neurol 54:925-31. 2012..The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with Pitt-Hopkins syndrome (PTHS), with specific attention to manifestations of autism spectrum disorder (ASD)...
- Facial features in Alagille syndrome: specific or cholestasis facies?Binita M Kamath
Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet 112:163-70. 2002..both within and between families, the possibility has been raised that cholestasis is the causative factor for the facies. In this study, the diagnostic specificity of the facies in Alagille syndrome has been evaluated by asking ..
- Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith
Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester M13 9WL, UK
Am J Hum Genet 89:675-81. 2011..This is a further example of how perturbation of a protein involved in chromatin modification might give rise to a multisystem developmental disorder...
- Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndromeMarc Forrest
Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK
Hum Mutat 33:1676-86. 2012....
- Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndromeA L Schulz
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Clin Genet 73:62-70. 2008....
- Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish modelAntje Brockschmidt
Institute of Human Genetics, Rheinische Friedrich Wilhelms University, Sigmund Freud Str 25, 53105 Bonn, Germany
Hum Genet 130:645-55. 2011..We provide evidence for a role of TCF4/E2-2 in ocular growth control in PTHS-patients and the zebrafish model...
- Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrationsKatrina Tatton-Brown
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
Am J Hum Genet 77:193-204. 2005..005) to carry missense mutations, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness...
- The cardiofaciocutaneous syndromeA Roberts
Harvard Medical School, Partners HealthCare System, Center for Genetics and Genomics, Boston, Massachusetts, USA
J Med Genet 43:833-42. 2006..The protein products of these genes also belong to the RAS-ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness...
- Orthopaedic conditions in Ras/MAPK related disordersKent A Reinker
Department of Orthopaedics, University of Texas Health Sciences Center, San Antonio, TX, USA
J Pediatr Orthop 31:599-605. 2011..Their orthopaedic manifestations are not well defined, and their phenotypic similarity makes differentiating them difficult...
- Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Anne Gregor
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
BMC Med Genet 12:106. 2011..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
- A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesityMinobu Shichiji
Department of Pediatrics, Tokyo Women s Medical University, Tokyo, Japan
Am J Med Genet A 161:850-5. 2013..1 deletion syndrome. For better medical management, appropriate dietary guidance against hyperphagia should be given to the patients' family...
- Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girlsTomoki Kosho
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
Am J Med Genet A 138:282-7. 2005..girls, aged 11 and 14 years, with clinical manifestations of Ehlers-Danlos syndrome (EDS) type VIB, characteristic facies, skeletal abnormalities, and other features are described...
- Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrumSandra Whalen
AP HP, Groupe Hospitalier Pitie Salpetriere, Unité fonctionnelle de génétique clinique, Département de génétique et cytogénétique, centre de référence maladies rares, Déficiences Intellectuelles de causes rares, Paris, France
Hum Mutat 33:64-72. 2012..In this study, we have summarized the current knowledge of TCF4 molecular pathology, reported all the mutations in the TCF4 database (http://www.LOVD.nl/TCF4), and present a novel and comprehensive diagnostic strategy for PTHS...
- Somatic mosaicism in a mother of two children with Pitt-Hopkins syndromeC V M Steinbusch
Department of Clinical Genetics, Maastricht UMC, The Netherlands
Clin Genet 83:73-7. 2013..We suggest careful studies in parents of other patients with PTHS to determine the frequency of germline and somatic mosaicism for TCF4 mutations...
- Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case reportIbrahim Halil Turkbeyler
Gaziantep University Faculty of Medicine, Department of Internal Medicine, Gaziantep, Turkey
Tokai J Exp Clin Med 36:29-30. 2011..However, Esophagus cancer has not been reported among the malignant tumors. Herein, we reported a patient with Dubowitz syndrome, IgA deficiency and Esophagus cancer...
- The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletionsMinire Hasi
Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, San Antonio, TX 78229, USA
Hum Genet 130:777-87. 2011....
- Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disordersPartha S Ghosh
Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH 44195, USA
J Child Neurol 27:1602-6. 2012..This case demonstrates the rare co-occurrence of 2 genetic disorders in the same individual...
- Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndromeKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children Nemours Childrens Clinic, Wilmington, DE 19899, USA
Am J Med Genet A 143:1472-80. 2007..Based on these clinical differences we suggest that patients with BRAF and MEK mutations should be diagnosed with CFC syndrome, and the diagnosis of Costello syndrome be reserved for patients with HRAS mutations...
- A review of 35 cases of asymmetric crying faciesH Caksen
Department of Pediatrics, Yuzuncu Yil University, Faculty of Medicine, Van, Turkey
Genet Couns 15:159-65. 2004A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth...
- Proposal of a clinical score for the molecular test for Pitt-Hopkins syndromeGiuseppe Marangi
Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Roma, Italy
Am J Med Genet A 158:1604-11. 2012..This scoring system is also proposed for a clinically based diagnosis of PTHS in absence of a proven TCF4 mutation...
- Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndromeDaphne Lehalle
Manchester Biomedical Research Centre, MAHSC, St Mary s Hospital, UK
Am J Med Genet A 155:1685-9. 2011....
- Mosaic microdeletion 18q21 as a cause of mental retardationDimitri J Stavropoulos
Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada
Eur J Med Genet 53:396-9. 2010....
- The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteriaGiuseppe Marangi
Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Roma, Italy
Am J Med Genet A 155:1536-45. 2011..Based on striking clinical criteria, a diagnosis of PTHS was made clinically in two patients who had normal TCF4. This report deals with the first series of PTHS patients of Italian origin...
- Associated anomalies in asymmetric crying facies and 22q11 deletionM Akcakus
Department of Pediatrics, Division of Neonatology, Erciyes University, Faculty of Medicine, Kayseri, Turkey
Genet Couns 14:325-30. 2003Congenital asymmetric crying facies, a minor congenital anomaly due to unilateral absence or hypoplasia of the depressor anguli oris muscle, is associated at times with major congenital anomalies...
- Co-existence of Dubowitz and hyper-IgE syndromes: a case reportK Antoniades
Oral and Maxillofacial Surgery Department, Aristotle University of Thessaloniki, Greece
Eur J Pediatr 155:390-2. 1996..The co-existence of these two syndromes is rare and we suggest that this is the first such case in the literature...
- A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defectP A Koivisto
Department of Clinical Genetics, Tampere University Hospital, Finland
Clin Dysmorphol 8:139-41. 1999..2q21.2) by high resolution banding. Consequently, prometaphase analysis is warranted in some cases when conventional karyotype analysis appears normal...
- 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromesB F Cuneo
Heart Institute for Children, Department of Pediatrics, Hope Children s Hospital, University of Illinois at Chicago, Chicago, Illinois 60045, USA
Curr Opin Pediatr 13:465-72. 2001..Classic features are dysmorphic facies, conotruncal cardiac defects, hypocalcemic hypoparathyroidism, T-cell mediated immune deficiency, and palate ..
- Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletionMustafa Akcakus
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey
Turk J Pediatr 46:191-3. 2004Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle...
- Cutaneous sarcoidosis presenting as leonine faciesChristina G Kendrick
Department of Dermatology, Louisiana State University Health Sciences Center, 1542 Tulane Ave, Room 634, New Orleans, LA 70112, USA
Cutis 73:57-62. 2004..A thorough systemic workup was void of other comorbidities. The reports of tumoral sarcoidosis or sarcoidosis presenting with leonine facies are rare, and those cases that have been reported have been linked to other systemic findings.
- Systemic mastocytosis-associated leonine facies and eyebrow lossHubert M Chodkiewicz
University of Texas Houston Medical School, The University of Houston Health Center, Houston, TX, USA
South Med J 104:236-8. 2011Leonine facies or loss of eyebrows, or both, occurring concurrently or in succession, can be associated with numerous etiologies...
- Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndromeJelena Urosevic
Molecular Oncology Program, Centro Nacional de Investigaciones Oncologicas CNIO, E 28029 Madrid, Spain
Proc Natl Acad Sci U S A 108:5015-20. 2011..Moreover, they may serve as a tool to evaluate the potential therapeutic efficacy of B-RAF inhibitors and establish the precise window at which they could be effective against this congenital syndrome...
- Mosaic monosomy 14: clinical features and recognizable faciesV McConnell
Department of Medical Genetics, Belfast City Hospital Trust, Belfast, UK
Clin Dysmorphol 13:155-60. 2004..A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation...
- Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26R Bayoumi
Department of Biochemistry, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman
J Med Genet 38:369-73. 2001..described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family...
- Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosisHolly H Ardinger
Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics, Kansas City, Missouri, USA
Am J Med Genet A 143:2959-62. 2007..Here, we report 2 new cases, review 13 previous cases, and propose that OES may be a mild variant of encephalocraniocutaneous lipomatosis (ECCL), differing primarily in its lack of intracranial pathology...
- A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patientsRobert P Erickson
Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
Am J Med Genet A 143:3302-8. 2007..2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome...
- Case report: Y;6 translocation with deletion of 6pOphir D Klein
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143 0748, USA
Clin Dysmorphol 14:93-6. 2005..Cytogenetic analysis showed the karyotype 46,XX,der(6)t(Y;6)(p11.2;p23).ish der(6)(SRY+,6pTEL48-). The effects of partial monosomy 6p are discussed and compared to other patients with interstitial and terminal 6p deletions...
- Further delineation of the 22q13 deletion syndromeS G Lindquist
The John F Kennedy Institute, Glostrup, Denmark
Clin Dysmorphol 14:55-60. 2005..The deletions varied in size, extending from 4.0 to 9.0 Mb. The clinical phenotype seemed rather similar although some specific features might be attributable to differences in deletions...
- Pseudoaminopterin syndrome and trisomy 9David A Stevenson
Am J Med Genet A 128:217-8. 2004
- Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22)T Martin-Denavit
Am J Med Genet A 128:219-21. 2004
- Teunissen-Cremers syndrome: a clinical, surgical, and genetic reportH H Weekamp
Departments of Otorhinolaryngology Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Otol Neurotol 26:38-51. 2005..To describe clinical and radiologic features, results of ear surgery, and genetic analysis in three families with Teunissen-Cremers syndrome...
- Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearanceMałgorzata J M Nowaczyk
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
Am J Med Genet A 146:354-60. 2008..We propose that this is a new congenital malformation syndrome associated with a paternal deletion of 6q24.3...
- Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a reviewEli Hershkovitz
Pediatric Endocrinology Unit and Department of Developmental Molecular Genetics, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
J Pediatr Endocrinol Metab 17:1583-90. 2004..Early recognition and therapy of hypocalcemia is important as is daily antibiotic prophylaxis against pneumococcal infections...
- Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous unionRoseli Maria Zechi-Ceide
Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
Am J Med Genet A 143:3295-301. 2007..The phenotype is variable in the three patients. The finding of three affected siblings of a consanguineous couple strongly suggests autosomal recessive inheritance...
- Anesthetic management in a child with Coffin-Siris syndromePaolo Silvani
Paediatr Anaesth 14:698-700. 2004
- 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. 2008Robinow's syndrome (Online Mendelian Inheritance in Man [OMIM] 268310), or fetal facies syndrome, is a rare genetic disorder causing autosomal dominant and recessive forms...
- Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndromeGretel G Oudesluijs
Department of Clinical Genetics, University Medical Center Groningen, The Netherlands
Am J Med Genet A 137:77-80. 2005..The cause of the entity remains uncertain, the most likely etiologies being X-linked recessive or autosomal dominant genes...
- Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?V Belengeanu
Department of Medical Genetics, University of Medicine and Pharmacy, Piata Eftimie Murgu 2, Timisoara, Romania
Genet Couns 16:167-71. 2005..The phenotype observed in this family may represent the mild end of a spectrum of clinical manifestations described in this condition. This report provides a further evidence for autosomal dominant transmission of the disorder...
- Kabuki syndrome: a case reportZ H S Lung
Royal Victoria Hospital, Belfast, UK
J Orthod 33:242-5. 2006..The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population...
- A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilitiesCélia M Giacheti
Departamento de Fonoaudiologia, UNESP, Marilia, SP, Brazil
Am J Med Genet A 143:3137-9. 2007..The disorder is compatible with autosomal dominant inheritance...
- Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisitedS B Wortmann
Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Nijmegen, The Netherlands
Genet Couns 18:119-23. 2007..The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome...
- Genitourinary anomalies of pediatric FG syndromeJames F Smith
Division of Urology, University of Utah, Salt Lake City, Utah, USA
J Urol 178:656-9. 2007..This report may help elucidate the pathogenic mechanisms responsible for the disorder. Also, we provide a simple checklist for urologists that will help guide referrals for genetics and other specialty consultations...
- Filamin A mutation is one cause of FG syndromeSheila Unger
Institute for Human Genetics, University of Freiburg, Freiburg, Germany
Am J Med Genet A 143:1876-9. 2007..Filamin A studies in other children with FG syndrome would help to confirm this association...
- Dental findings in Kabuki make-up syndrome: a case reportCristiane Tomaz Rocha
Department of Pediatric, Preventive and Social Dentistry, School of Dentistry of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil
Spec Care Dentist 28:53-7. 2008..The clinical and radiographic detection of these unique dental features may be helpful in identifying children who may have milder forms of KMS...
- Identification of proximal 1p36 deletions using array-CGH: a possible new syndromeS H L Kang
Department of Molecular and Human Genetics, Baylor College of Medicine, Clinical Care Center, 6701 Fannin Street, Houston, TX 77030, USA
Clin Genet 72:329-38. 2007..delay, sensorineural hearing loss, seizures, cardiomyopathy and cardiovascular malformations, and distinct facies including large anterior fontanel, deep-set eyes, straight eyebrows, flat nasal bridge, asymmetric ears, and ..
- 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..Mexican girl whose phenotype fulfills all the clinical and radiological criteria reported in MS such as typical facies, short stature, limited joint mobility, and short hands and feet...
- Pai syndrome: report of seven South American patientsMaria Leine Guion-Almeida
Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 143:3273-9. 2007..2) in one instance...
- Craniofacial cephalometric morphology in children with CATCH 22 syndromeA Heliövaara
Department of Plastic Surgery, Cleft Center, Helsinki University Central Hospital, HUS, Finland
Orthod Craniofac Res 9:186-92. 2006..To evaluate cephalometrically the craniofacial, pharyngeal and cervical morphology in children with CATCH 22, and to compare and quantify the findings with age- and sex-matched controls...
- Bird-headed dwarf of SeckelB G Harsha Vardhan
Department of Oral Medicine and Radiology, Meenakshi Ammal Dental College and Hospital, Maduravoyal, Chennai, India
J Indian Soc Pedod Prev Dent 25:S8-9. 2007..Other facial features may include abnormally large eyes, a narrow face, malformed ears and an unusually small jaw. This syndrome has an autosomal recessive pattern of inheritance. A case of the Seckel syndrome is presented...
- Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndromeTeguh Haryo Sasongko
Department of Public Health, Kobe University Graduate School of Medicine
Kobe J Med Sci 53:157-62. 2007..In conclusion, molecular genetic analysis of ZFHX1B is important for a definite diagnosis of MWS which has a wide phenotypic spectrum of congenital anomalies...
- Stickler syndrome: clinical characteristics and diagnostic criteriaPeter S Rose
Warren Magnuson Grant Clinical Center, National Institutes of Health, Bethesda, Maryland, USA
Am J Med Genet A 138:199-207. 2005....
- Sotos syndrome caused by a paracentric inversion disrupting the NSD1 geneV Malan
Clin Genet 73:89-91. 2008
- Costello syndrome and related disordersEmilio Quezada
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
Curr Opin Pediatr 19:636-44. 2007..The discovery of gene mutations underlying these and other closely related disorders allows for molecular confirmation of a clinical diagnosis...
- What syndrome is this? Dubowitz syndromeJose Carlos Pascual
Department of Dermatology, Hospital General Universitario de Alicante, Alicante, Spain
Pediatr Dermatol 22:480-1. 2005
- Hay-Wells syndrome (AEC): a case reportEmilio Macias
Department of Orthodontics, Faculty of Medicine, University of Oviedo, Spain
Oral Dis 12:506-8. 2006..The majority of authors consider ankyloblepharon, ectodermal dysplasia and orofacial clefting as cardinal signs. They are all are present in the case reported...
- The face of Joubert syndrome: a study of dysmorphology and anthropometryStephen R Braddock
University of Virginia Pediatrics, Charlottesville, California, USA
Am J Med Genet A 143:3235-42. 2007..Variability and overlap of features in JS and other hindbrain syndromes makes clinical diagnosis difficult and probably reflects genetic heterogeneity within the cohort of patients with the MTS...
- Axenfeld-Rieger syndrome: report on dental and craniofacial findingsAshok Kumar Jena
Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India
J Clin Pediatr Dent 30:83-8. 2005..There was an anterior crossbite, bilateral posterior open-bite and moderate to severe anterior crowding...
- Characterizing the oculoauriculofrontonasal syndromeMichael T Gabbett
Genetic Health Queensland, Royal Children s Hospital, University of Queensland, Brisbane, Queensland, Australia
Clin Dysmorphol 17:79-85. 2008....
- Dental findings of a child with Wolf-Hirschhorn syndromeN J Johnston
Department of Child Dental Health, Bristol Dental Hospital, Lower Maudlin Street, Bristol, BS1 2LY, UK
Int J Paediatr Dent 16:139-42. 2006..It also suggests that other dental anomalies could occur in children with Wolf-Hirschhorn syndrome...
- Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?Catherine L Mercer
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
Clin Dysmorphol 17:91-3. 2008..These families have some similarities to those reported by Stoll et al. in a single family, showing dominant inheritance. Our patients would seem to have the same or a related condition...
- A second family with Micro syndromeG RodrIguez Criado
Unidad de Dismorfología, Infantil Universitario Virgen del Rocio, Sevilla, Spain
Clin Dysmorphol 8:241-5. 1999..The facies are mildly dysmorphic, but not distinctive. No metabolic, nor chromosomal anomalies were found...
- Guadalajara camptodactyly syndrome type I: report on a new caseR M Zechi-Ceide
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Brazil
Clin Dysmorphol 11:129-32. 2002..The constellation of clinical signs present in this patient is consistent with the diagnosis of Guadalajara camptodactyly syndrome type I. Clinical and genetic aspects concerning this condition are discussed...
- Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndromeYuki Kondoh
Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan
Am J Med Genet A 120:123-6. 2003..Olfactory receptor gene clusters at 4p16.3 were ruled out as an intermediary of the duplication deletion process...
- Freeman-Sheldon syndrome: a case reportGamze Aren
Department of Pedodontics, Faculty of Dentistry, University of Istanbul, Istanbul, Turkey
Quintessence Int 34:307-10. 2003..This article describes a case of Freeman-Sheldon syndrome in a 10-year-old male. The most apparent deformities are associated with orofacial and skeletal development...
- DOOR syndrome: report of three additional casesTemis Maria Felix
Servicio de Genetica medica, Hospital de Clinicas de Porto Alegre, Rio Grande do Sul, Brazil
Clin Dysmorphol 11:133-8. 2002..Three new cases of DOOR syndrome are described in unrelated Brazilian children. One of these cases also has a congential cardiac defect. None of the cases has organic acid abnormalities and they can therefore be classified as Type II...
- Schinzel-Giedion syndrome: interesting facial and orodental features, and dental managementM E Cooke
Department of Paediatric Dentistry, Charles Clifford Dental Hospital, Sheffield, UK
Int J Paediatr Dent 12:66-72. 2002Schinzel-Giedion syndrome comprises multiple congenital anomalies. The orofacial features include coarse facies, frontal bossing, ocular hypertelorism, anterior open bite and macrodontia...
- Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndromeHeidi A Heilstedt
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 72:1200-12. 2003..Our clinical findings allow for the more accurate recognition of the syndrome and for proper medical evaluation...
- Cerebro-oculo-facial-lymphatic syndromeJ M Milunsky
Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, Massachusetts 02118, USA
Clin Genet 63:291-6. 2003..We propose the syndromic appellation of cerebro-oculo-facial-lymphatic syndrome, suggest cardinal diagnostic features, and discuss several possible overlapping syndromic diagnoses...
- Diagnosing acrocallosal syndromeAshutosh Gupta
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
Indian J Pediatr 70:177-9. 2003..A 3-month-old male child presented with typical features of acrocallosal syndrome. He satisfies Courten's diagnostic criteria for acrocallosal syndrome...
- Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndromeT Takahashi
Department of Pediatrics, Akita University School of Medicine, Akita, Japan
Clin Genet 60:447-51. 2001..386T>A (L129X) in a familial case of symphalangism, and a g.58delC (frameshift) in a family with multiple synostosis syndrome. Characteristic genotype-phenotype correlations have not been recognized from the mutations in the NOG gene...
- Macular deposits: a new feature of Kabuki syndrome?Samer M Elsherbiny
Birmingham and Midland Eye Center, United Kingdom
J Pediatr Ophthalmol Strabismus 39:251-3. 2002
- Toriello-Carey syndrome: delineation and reviewHelga V Toriello
Genetics Services, Spectrum Health, Grand Rapids, Michigan, USA
Am J Med Genet A 123:84-90. 2003..However, for various reasons, only 25 of the unpublished patients were included in this review. Based on this total, we can begin to better delineate this syndrome, as well as provide some information on natural history...
- Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?Ingrid B Sinnerbrink
Department of Clinical Genetics, The Western Sydney Genetics Program, The Children s Hospital at Westmead, Randwick NSW, Sydney, Australia
Clin Dysmorphol 13:173-7. 2004..We have reviewed similar cases in the literature and discuss these in the context of our cases, who may have a previously undescribed syndrome...
- Seckel syndrome associated with atrioventricular canal defect: a case reportBirsen Ucar
Clin Dysmorphol 13:53-5. 2004..We report a boy with this syndrome who also had severe cardiac anomalies. Although his parents were non-consanguineous, it is suggested that he had autosomal recessive inheritance...
- Loose anagen hair syndrome associated with colobomas and dysmorphic featuresLars Kjaersgård Hansen
Clin Dysmorphol 13:31-2. 2004..She also had several other anomalies including colobomas. We suggest that the combination of features in this patient may constitute a specific syndromic phenotype...
- [Siblings with neonatal progeroid syndrome (Wiedemann-Rautenstrauch)]T Hoppen
Klinik fur Kinder und Jugendmedizin, Städtisches Klinikum Kemperhof, Koblenz
Klin Padiatr 216:70-1. 2004..NPS is usually lethal by 7 months. 5 pairs of siblings with NPS are already published. We present the second report worldwide of two siblings with NPS actually at the age of 5 and 15 years...
- 22q13 deletion syndrome with central diabetes insipidus: a previously unreported associationAmin J Barakat
Georgetown University Medical Center, Washington, DC, USA
Clin Dysmorphol 13:191-4. 2004..The association of 22q13 deletion syndrome with central diabetes insipidus is reported for the first time...
- [Hypomelanosis of Ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome]C Gomez-Lado
Servicio de Neuropediatria, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Espana
Rev Neurol 38:223-8. 2004..Hypomelanosis of Ito (HI) or incontinentia pigmenti achromians is a multisystemic neurocutaneous disorder that is associated to neurological complications in a high percentage of patients...
- Occlusal guidance of two Kabuki make-up syndrome patients: case reportsKeisuke Takada
Department of Oral Growth and Development, Fukuoka Dental College, Japan
J Clin Pediatr Dent 28:113-8. 2004..Oral characters of another patient were an anterior open bite, transposition of maxillary central and lateral incisor. Orthodontic treatment in two patients is reported and suggested future treatment plans in these patients is given...
- Cutaneous manifestations of endocrine disorders: a guide for dermatologistsSerge A Jabbour
Division of Endocrinology, Diabetes and Metabolism, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
Am J Clin Dermatol 4:315-31. 2003..The striking features of Cushing syndrome are centripetal obesity, moon facies, buffalo hump, supraclavicular fat pads, and abdominal striae...
- Stable iron isotopes and microbial mediation in red pigmentation of the Rosso Ammonitico (mid-late Jurassic, Verona area, Italy)Alain R Préat
Department of Earth and Environmental Sciences, Universite Libre de Bruxelles ULB, Brussels, Belgium
Astrobiology 8:841-57. 2008..52 to -0.06 per thousand) on a millimeter-centimeter scale between the red and grey facies of the studied formation...
- [Effects of manipulation therapy in repairing rabbit articular cartilage defects]Ling Hui Dai
Department of Traumatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
Zhong Xi Yi Jie He Xue Bao 7:372-9. 2009..To evaluate the efficacy of manipulation therapy in repairing thin-layer and thick-layer articular cartilage defects in rabbits...
- Identify genes causing Kabuki SyndromeJEFFREY MILUNSKY; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- IDENTIFICATION OF IMPRINTED GENES ON CHROMOSOME 14Lisa Shaffer; Fiscal Year: 2001..in a short- limb dwarfism with narrow thorax, decreased survival due to respiratory difficulties, dysmorphic facies, scoliosis, and short status...
- GENETIC BASIS OF THE ALAGILLE SYNDROMEElizabeth Rand; Fiscal Year: 1999..The Alagille Syndrome is a clinically defined disorder characterized by cholestatic liver disease, a peculiar facies, structural heart defects, vertebral anomalies and ocular abnormalities...
- THE ROLE OF UFD1 AND CDC45 IN NEURAL CREST DEVELOPMENTVidu Garg; Fiscal Year: 2004..The CATCH-22 (gardiac defects, abnormal facies, !hymic hypoplasia, cleft palate, and itypocalcemia associated with chromosome 22 microdeletion) syndrome is ..
- GENETIC & ENVIRONMENTAL DETERMINANTS OF CRANIOFACIAL DISBrendan Lee; Fiscal Year: 2005..of other malformations affecting skeletal development as well as for diagnosis subtle defects of the cranium and facies. At the same time, cell non-autonomous processes such as vascular hypoperfusion contribute to the genesis of birth ..
- GENE DISCOVERY FOR CRANIOFACIAL DISORDERSRichard Spritz; Fiscal Year: 2007..craniofacial development that, in particular, should identify genetic pathways and networks of the developing facies that are responsive to Ski...
- MOLECULAR GENETICS OF FACIO AUDIO SYMPHALANGISMDeborah Krakow; Fiscal Year: 1999..FAS) is an autosomal dominant disorder characterized by a triad of findings including distinct facies, early onset deafness and progressive joint fusions. We have identified a large Hawaiian family with this disorder...
- Identify Waardenburg syndrome type 2 loci in manJEFFREY MILUNSKY; Fiscal Year: 2005..We will perform a high-density genome scan coupled with linkage disequilibrium analyses on 3 large multigenerational families and multiple smaller families with WS2 to identify candidate gene(s) with mutations causing WS2. ..
- MRI/S in Children with Prenatal Alcoholic ExposureSusan Astley; Fiscal Year: 2004..A pilot feasibility study will also be conducted to determine if fMRI can be effectively administered to this population. ..
- GENETICS OF PARKINSON DISEASE IN THE AMISHBrad Racette; Fiscal Year: 2006..abstract_text> ..
- Association of 7q22..1 gene VGF with obesity & leannessJohn Martignetti; Fiscal Year: 2008..These physiologically linked, target-tissue genes may themselves play a functional role in obesity resistance or susceptibility, and thus become excellent candidates for future investigation. ..
- FAS Prevention: A Trial of the IOM ModelPhilip May; Fiscal Year: 2009..Selective and universal prevention use: screening for alcohol abuse;targeted messages to change norms and KABB;policy advocacy;and community education and dialogue. ..
- Genetic analysis of congenital diaphragmatic herniaAnne Slavotinek; Fiscal Year: 2006..abstract_text> ..
- GENETIC DISSECTION OF A BONE DYSPLASIA/CANCER SYNDROMEJohn Martignetti; Fiscal Year: 2002....
- International Neuropsychological Study of FASD--U01Philip May; Fiscal Year: 2005..abstract_text> ..
- Schizophrenia Predisposition in 22q11 Deletion SyndromeVandana Shashi; Fiscal Year: 2005..abstract_text> ..
- TRIAL OF FAS PREVENTION IN AMERICAN INDIAN COMMUNITIESPhilip May; Fiscal Year: 2001..Furthermore, prevention protocols, research techniques and methods, will test the recommendations of the IOM report and should also be applicable to non-Indian communities as well. ..
- Trial of FAS Prevention and Diagnosis Among IndiansPhilip May; Fiscal Year: 2008..The proposed renewal will ensure sufficient time to test the IOM model of prevention while advancing science in several other ways. ..
- Epidemilogy of Parkinsonism in WeldersBrad A Racette; Fiscal Year: 2011..The cohort assembled will provide unique opportunities for future research projects into gene-environment interactions and exposure related neuroimaging changes. ..
- Patient-Oriented Research in Recessive Pediatric Brain DiseasesJoseph Gleeson; Fiscal Year: 2008....
- Molecular Mechanisms of Neuronal MigrationJoseph Gleeson; Fiscal Year: 2006..2) DCX and LIS1 function to regulate nuclear movement during neuronal migration. 3) DCX is regulated by cdk5 during neuronal migration. ..
- The Molecular Basis of Pseudoexfoliation SyndromePratap Challa; Fiscal Year: 2007..The Ophthalmology department at Duke University is an ideal setting for training physician-scientists and has an established track record of strong support for promising clinician-scientists. ..
- Molecular Analysis of Alagille SyndromeNANCY SPINNER; Fiscal Year: 2006..abstract_text> ..
- Functional MRI of Cognitive Activation in FAS/FAEPaul Connor; Fiscal Year: 2004....
- AIRWAY MYOCYTE PROLIFERATION AND LYSOSOMAL HYDROLASEDUKHEE LEW; Fiscal Year: 2001..The proposed studies are intended to advance the knowledge of the mechanism(s) underlying airway smooth muscle proliferation. ..