Genomes and Genes
congenital foot deformities
Summary: Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
Articles from Journal RESEARCH
Articles from Journal RESEARCH1
Publications185 found, 100 shown here
- Musculoskeletal manifestations of Russell-Silver syndromeEdward Abraham
Department of Orthopaedics, The University of Illinois College of Medicine at Chicago, Chicago, Illinois 60612, USA
J Pediatr Orthop 24:552-64. 2004..All 18 patients studied had retardation of bone age, which peaked at age 7 years...
- [Freeman-Sheldon syndrome: clinical manifestations and anesthetic and surgical management]J L Alonso Calderón
Hospital Infantil del Niño Jesús, Servicio de Cirugia Pediatrica, Madrid, Spain
An Esp Pediatr 56:175-9. 2002..We describe the preanesthetic management, anesthetic method and surgical technique performed when the child was aged 9 months. The delay was due to recurrent episodes of bronchopneumonia...
- Limb malformations and the human HOX genesFrances R Goodman
Molecular Medicine Unit, Institute of Child Health, London, England
Am J Med Genet 112:256-65. 2002..Limb malformations may also result from chromosomal deletions involving the HOXD and HOXA clusters, and from regulatory mutations affecting single or multiple HOX genes...
- Associated anomalies in individuals with polydactylyE E Castilla
ECLAMC at Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil
Am J Med Genet 80:459-65. 1998..Down syndrome is strongly associated with first-digit duplication, and negatively associated with postaxial polydactyly. The latter could not be explained by maternal age differences among Black and non-Black case sub-sets...
- Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity aloneR J Galjaard
Department of Clinical Genetics, Erasmus University Rotterdam University Hospital Rotterdam, Rotterdam, Netherlands
Am J Med Genet 98:256-62. 2001..We present evidence that differences in complexity are not only due to locus heterogeneity, but that genetic modifiers and/or environmental factors must also play a role...
- Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasiaMuhammad Faiyaz-Ul-Haque
The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet 111:31-7. 2002..The present report confirms that CDMP1 plays an important role in the regulation of axial bone growth during development and suggests that its absence does not impair other developmental processes...
- Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)M Faiyaz-Ul-Haque
The Hospital for Sick Children, Toronto, Ontario, Canada
Clin Genet 61:454-8. 2002..This finding extends the spectrum of phenotypes produced by defects in the CDMP1 gene...
- Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARGKlaus W Kjaer
Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Panum Institute 24 4, Blegdamsvej 3, 2200 Copenhagen N, Denmark
Am J Med Genet A 137:148-52. 2005..However, it was located 83 bp from exon 2, suggesting it is a rare polymorphism which does not account for the phenotype. No other mutations were found. This suggests that another yet unknown gene is responsible for the condition...
- Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndromeYanick J Crow
Am J Med Genet A 137:233; author reply 234. 2005
- Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndromeNoriko Miyake
Departments of Human Genetics and Pediatrics, Nagasaki University School of Medicine, Nagasaki and CREST, Japan Science and Technology Corporation, Kawaguchi, Japan
Am J Hum Genet 72:1331-7. 2003....
- Brachydactylic multiple delta phalanges plus syndromeChristina P Ahn
Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, 94143 0706, USA
Am J Med Genet A 138:41-4. 2005..Possible modes of inheritance in this family include variable expression of a recessive or de novo dominant condition...
- The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five casesXavier Bigatà
Department of Dermatology, Hospital Universitari Germans Trias i Pujol, Universitat Autonoma de Barcelona, Spain
Pediatr Dermatol 20:113-8. 2003..As no single feature, including any of the three cardinal signs, is mandatory for syndrome diagnosis, a meticulous examination of all family members is needed...
- Anonychia and maxillofacial anomalies: an undefined syndrome?Eray Copcu
Ann Plast Surg 56:350-1. 2006
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosisBárbara Fernandes
Department of Dermatology, Hospitais da Universidade de Coimbra, Coimbra, Portugal
Pediatr Dermatol 19:330-2. 2002..The clinical picture suggested ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. The presence of perioral papillomatosis, classically seen in Goltz syndrome, has been reported only once before in EEC syndrome...
- A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotypeWolfram Heinritz
Institute of Human Genetics, University of Leipzig Medical Faculty, Leipzig, Germany
Am J Med Genet A 140:1223-7. 2006..We report on the clinical findings in a 2(1/2)-year-old boy with some aspects out of the MWS-spectrum in addition to unusual anomalies and a novel missense mutation in the ZFHX1B gene...
- Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysisMohammed Naveed
Center for Arab Genomic Studies CAGS, Dubai, United Arab Emirates
Am J Med Genet A 140:1440-6. 2006..1. Two-point linkage and haplotype analyses did not show the involvement of the above regions in this family...
- Split hand-foot malformation: a congenital central limb ray deficiencyG P Thami
Department of Dermatology and Venereology, Government Medical College and Hospital, Sector 32, Chandigarh, India
J Postgrad Med 48:209-10. 2002
- Cutis aplasia as a feature of Kabuki syndromeNatalie L E Canham
Clinical Genetics Unit, Great Ormond Street Hospital, London, UK
Clin Dysmorphol 15:179-80. 2006..This case report describes a child with the features of Kabuki syndrome, but with the additional feature of scalp cutis aplasia, which has not been previously described in this syndrome...
- 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...
- Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndromeR Glorio
J Eur Acad Dermatol Venereol 17:356-8. 2003
- 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...
- The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-geneJ J van den Ende
Department of Medical Genetics, University Hospital Antwerp, Universiteitsplein 1, 2610 Wilrijk, Belgium
Clin Dysmorphol 14:73-80. 2005..The variable expression and progressive nature of the syndrome is well illustrated by this family. The role of Noggin as the causative factor of symphalangism is discussed...
- Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-TeebiMariken Ruiter
Am J Med Genet A 135:344; author reply 345. 2005
- Yunis-Varon syndromeSameer Bhatia
Department of Pediatrics, Army Hospital Research and Referral, Delhi Cantt 110 010, India
Indian Pediatr 42:373-5. 2005....
- A case report of brachydactyly types D and E: a new variation of brachydactylyShaun Ridgeway
Barnet General Hospital, London, UK
Foot Ankle Int 25:419-22. 2004
- van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contracturesDania Guerra
Unidad de Genética Médica, Escuela de Ciencias de la Salud, Nucleo Bolivar, Universidad de Oriente, Ciudad Bolivar, Estado Bolivar, Venezuela
Am J Med Genet A 136:377-80. 2005..Here, we report on a Venezuelan child with manifestations of van den Ende-Gupta syndrome, including blepharophimosis, arachnodactyly, and congenital contractures. We also review cases from the literature...
- [The cleft hand. Proposal of a classification based on 279 cleft hands]A Falliner
Klinik für Orthopädie, Universitatsklinikum Schleswig Holstein, Campus Kiel
Handchir Mikrochir Plast Chir 36:47-54; discussion 55-8. 2004..We propose a new classification of cleft hand based on the analysis of our own cases and a literature search...
- Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defectsJ Román Corona-Rivera
Doctorado en Genetica Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
Am J Med Genet A 125:205-9. 2004..Variable expression of the CPP phenotype may be a new autosomal dominant entity, i.e., a CPP-postaxial limb defect syndrome...
- Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patientKerstin N Walter
Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
Am J Med Genet A 140:649-51. 2006
- The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotypeTony Roscioli
Queensland Clinical Genetics Service, Herston, Brisbane, Queensland, Australia
Am J Med Genet A 124:136-41. 2004..Further investigations are in progress to identify the gene within the SHFM3 critical region responsible for ectrodactyly...
- [Hearing loss in Townes-Brocks syndrome]J Rodriguez Asensio
Servicio de Otorrinolaringologia, Hospital de Jarrio, Asturias
Acta Otorrinolaringol Esp 54:518-22. 2003..In this paper we present several members of the same family with similar alterations who finally were diagnosed of Townes-Brocks syndrome...
- Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow upRainer König
Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany
Clin Dysmorphol 12:221-5. 2003..In addition, our patient developed hypernatraemia, which has been described in three patients before...
- [Establishing a new severity score for EEC: ectrodactyly-ectodermal dysplasia-cleft lip and palate]A Danino
Service de Chirurgie plastique et Maxillo Facial, Hopital General, CHU de Dijon, 3, rue du Faubourg Raine, 21000 Dijon
Rev Stomatol Chir Maxillofac 104:140-3. 2003..In 1995, Roelfsema and Cobben established a severity score on the basis of data in the literature...
- Trismus-pseudocamptodactyly syndrome: a case reportS Pelo
Department of Dentistry, Universita Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, and G Eastman Hospital, Rome, Italy
Eur J Paediatr Dent 4:33-6. 2003..Hecht and Beals in 1969 described an autosomal dominant syndrome characterised by severe restriction of mouth opening, camptodactyly, shortness of leg muscles and, as a direct consequence, foot deformities...
- Symmetrical absence of hands and feet with bilateral radius agenesia: case report of a new entity?Rafael Fabiano Machado Rosa
Postgraduation Program in Pathology and Clinical Genetics Discipline, Fundacao Faculdade Federal de Ciencias Medicas, Porto Alegre, Brazil
Clin Dysmorphol 15:235-7. 2006
- A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type BMarco Castori
IRCCS C S S San Giovanni Rotondo and C S S Mendel Institute, Rome, Italy
Am J Med Genet A 143:195-9. 2007..Also, radial and ulnar rays are similarly affected. The CS clinical spectrum is expanded to include ungueal tumor-like lesions, observed in the present patient...
- A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndromeJeffrey W Innis
Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI, USA
Hum Mutat 19:573-4. 2002..The missense mutation, which alters a key residue in the recognition helix of the homeodomain, is likely to perturb HOXA13's DNA-binding properties, resulting in both a loss and a specific gain of function...
- Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndromeF R Goodman
Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
Am J Hum Genet 67:197-202. 2000..Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism...
- Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli
Department of Human Genetics 417, University Hospital Nijmegen, The Netherlands
Cell 99:143-53. 1999..Transactivation studies with these mutant p63 isotypes provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome...
- BrachydactylySamia A Temtamy
Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, El Buhouth St, Dokki, 12311, Cairo, Egypt
Orphanet J Rare Dis 3:15. 2008..If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies...
- The surgical management of the upper extremity anomalies associated with Du Pan syndromeV C Lees
Christine M Kleinert Institute for Hand and Micro Surgery, Louisville, USA
J Hand Surg Br 23:57-61. 1998..This article describes experience gained through the management of four patients with this disorder. The surgical management of the upper limb abnormalities is discussed and a detailed timetable for their treatment is suggested...
- Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome?E M Jones
Division of Dermatology, University of Louisville, KY 40292
Pediatr Dermatol 9:293-7. 1992..This could represent a newly recognized syndrome of numerous malformations in which ACC is associated with a constellation of previously undescribed structural anomalies...
- Adams-Oliver syndrome with unusual central nervous system alterationsJ Romani
Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Pediatr Dermatol 15:48-50. 1998..We report an infant with Adams-Oliver syndrome associated with intracranial calcifications in whom no evidence of intrauterine infection could be demonstrated...
- Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromesSujoy Ghosh
Department of Oral Medicine and Radiology, Manipal College of Dental Sciences, Manipal, Karnataka, India
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 103:670-6. 2007..Further, we present a review of various other similar syndromes, such as various types of orofacial digital (OFD) syndrome and acrofacial dysostosis...
- Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotypeRomain Dayer
Department of Paediatric Orthopaedics, Children s Hospital, Geneva, Switzerland
J Pediatr Orthop 27:266-9. 2007..This very rare autosomal dominant condition is known to be associated with a highly variable phenotype, as illustrated by the distinct clinical presentations, despite identical genotype...
- Mutation of HOXA13 in hand-foot-genital syndromeD P Mortlock
Dept of Human Genetics, Univ of Michigan Medical School, Ann Arbor 48109 0618, USA
Nat Genet 15:179-80. 1997..The mutation converts a highly conserved tryptophan residue in the homeodomain to a stop codon, which truncates 20 amino acids from the protein and likely eliminates or greatly reduces the ability of the protein to bind to DNA...
- Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactylyS W Scherer
Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada
Hum Mol Genet 3:1345-54. 1994..Finally, we have mapped DLX5, a member of the Distal-less homeobox gene family, to the SHFD1 critical interval...
- A hypothesis and model of reduced fetal movement as a common pathogenetic mechanism in clubfootT W Hester
Neuroscience Centre and Pathology Group, Institute of Cell and Molecular Sciences, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, The Royal London Hospital, Whitechapel, London E1 1BB, United Kingdom
Med Hypotheses 73:986-8. 2009..It is one of the most common congenital defects, with a prevalence of around 1 per 1000. Ambiguity still surrounds the classification and pathogenesis of clubfoot...
- Preclinical symptoms of the diabetic footHalil I Bekler
Orthopaedics and Traumatology, Yeditepe University, Istanbul, Turkey
J Am Podiatr Med Assoc 99:114-20. 2009..The diabetic foot is one of the main complications of diabetes mellitus, with a high risk of minor or major amputation. The preclinical foot lesions of patients without foot complaints were compared with healthy controls and analyzed...
- Cutis marmorata telangiectatica congenitaNasser Rashid Dar
Department of Dermatology, PNS Shifa Hospital, Karachi
J Coll Physicians Surg Pak 13:653-5. 2003..These associated abnormalities are very rare and some have not been documented before with CMTC. The possible relationship of CMTC with Adams-Oliver syndrome is also discussed...
- Mandibular widening by distraction osteogenesis in the treatment of a constricted mandible and telescopic biteHiroki Kita
Health Administration Center, Tohoku University, Aoba ku, Sendai, Japan
Cleft Palate Craniofac J 41:664-73. 2004..Documentation of the application of mandibular widening by distraction osteogenesis and orthodontics...
- A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani originSajid Malik
Zentrum für Humangenetik, Philipps Universitat Marburg, Marburg, Germany
Am J Med Genet A 126:61-7. 2004..We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for syndactyly types I, II, and III...
- Ellis-Van Creveld syndrome with syndrome X--a rare association from the Indian subcontinentM Nasir Shamas
Department of Endocrinology, Sheri Kashmir Institute of Medical Sciences, Srinagar, J and K, India
J Pediatr Endocrinol Metab 23:189-92. 2010..To our knowledge, this association has not been previously reported in the medical literature, and helps to unravel the metabolic association of this disorder...
- Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutationMatthew B Dobbs
Department of Orthopedic Surgery, Washington University School of Medicine, One Children s Place, Suite 4S20, St Louis, MO 63110, USA
J Orthop Res 23:1490-4. 2005..However, mutations in CDMP-1 do not appear to be a frequent cause of isolated congenital vertical talus...
- Use of internal callus distraction in the treatment of congenital brachymetatarsiaNaoto Yamada
Department of Plastic and Reconstructive Surgery, School of Medicine, Kitasato University, 1 15 1 Kitasato Sagamihara, Kanagawa 228 8555, Japan
Br J Plast Surg 58:1014-9. 2005..The patient was cosmetically improved. This technique has some advantages over the method of external distraction...
- A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han familyXun Hua Li
Department of Neurology, First Affiliated Hospital, Sun Yat Sen University, Guangzhou, 510089, China
Chin Med J (Engl) 120:834-7. 2007
- Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split footJ Weimer
Klinikum der Christian Albrechts Universität zu Kiel, Frauenklinik Onkologisches Labor, Michaelisstrasse 16, D 24105 Kiel, Germany
J Med Genet 37:442-5. 2000....
- The effect of foot orthoses on standing foot posture and gait of young children with Down syndromeL Selby-Silverstein
Department of Physical Therapy, Neumann College, One Neumann Drive, Aston, PA 19014, USA
NeuroRehabilitation 16:183-93. 2001..0003), and walking speed (p=0.0001) all decreased with FO use. Trial-to-trial variability of normalized peak ankle moment (p=0.0001), and of phase of peak ankle moment (p=0.0001) increased when the children wore FOs...
- [A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family]Wei Yang
Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology, Peking Union Medical College, Beijing 100005, China
Zhonghua Yi Xue Za Zhi 86:652-8. 2006..To identify the disease-causing genetic alteration of split-hand/split-foot malformation (SHFM) in a Chinese family...
- [Genetic analysis of a Chinese pedigree with split hand and foot malformation]Jun Yang
Bio X Center, Shanghai Jiaotong University, Shanghai, 200030 PR China
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:620-4. 2007..To analyze the clinical manefestation and genetic basis of split hand and foot malformation (SHFM) in a Chinese pedigree...
- Tibio-calcaneo-naviculo-cuboidale arthrodesis: 6 patients followed for 1-8 yearsMichael Weber
Orthopedic Department, University Hospital of the RWTH Aachen, Germany
Acta Orthop Scand 73:98-103. 2002..The method permits early weight bearing, while providing stability and compression of the fusion, thereby avoiding further loss of bone stock...
- Relative metatarsal protrusion in the adult: a preliminary studyGabriel Dominguez
Department of Podiatry, University of Seville, C Avicena S n, 41009 Seville, Spain
J Am Podiatr Med Assoc 96:238-44. 2006..Mean metatarsal protrusion relative to the second metatarsal was +1.21% for the first metatarsal, -3.84% for the third metatarsal, -9.66% for the fourth metatarsal, and -16.91% for the fifth metatarsal...
- Split hand foot malformation (SHFM)A M Elliott
Department of Biochemistry and Medical Genetics, University of Manitoba, Canada
Clin Genet 68:501-5. 2005..In this article, we briefly review the nomenclature associated with SHFM and its classifications...
- Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2Andrew O M Wilkie
Am J Med Genet 111:105. 2002
- [Results of surgical treatment of congenital clubfeet with the Sotirow method]Andrzej Sionek
Oddział Dzieciecy Kliniki Ortopedii, Centrum Medyczne Kształcenia Podyplomowego Samodzielny Publiczny Szpital Kliniczny im A Grucy w Otwocku
Chir Narzadow Ruchu Ortop Pol 67:5-9. 2002..The method introduced by Sotirow seems to be highly effective and worth applying. It enables a real elimination of soft-tissue contractures, which retains the deformity of the foot through an antero-lateral approach...
- A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapyAnja Fritsch
Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
J Clin Invest 118:1669-79. 2008..These data demonstrate that fibroblast-based treatment can be used to treat DEB in a mouse model and suggest that this approach may be effective in the development of clinical therapeutic regimens for patients with DEB...
- Syndrome of renal, genital and feet malformationsS Bianca
Dipartimento di Pediatria, University of Catania Via S Sofia 78, 95123, Catania, Italy
Ann Genet 44:121-3. 2001..Although the pattern of malformations overlaps the Townwes-Brock syndrome and that reported by Green et al in 1996, differential diagnosis was made with other several syndromes including acral and renal anomalies...
- Limb reconstruction using circular frames in children and adolescents with spina bifidaS P Kelley
The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
J Bone Joint Surg Br 92:1017-22. 2010..Two tibiae required further surgery for recurrence. All feet were plantigrade and braceable. We conclude that the Ilizarov technique offers a refreshing approach to the complex lower-limb deformity in spina bifida...
- Treatment of brachymetatarsia of the first and fourth ray in adultsWoo Chun Lee
Inje University, Orthopaedic Surgery, 85, Jeo dong, Jung Gu, Seoul 100 032, Republic of Korea
Foot Ankle Int 30:981-5. 2009..The purpose of this study was to review our results of treatment for brachymetatarsia involving the first and fourth ray...
- Congenital hypertrophy of the abductor digiti minimi muscle of the footThomais Iconomou
Plast Reconstr Surg 115:1223-5. 2005
- Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar)A Al Kaissi
Service d Orthopedie Infantile, Hospital d Enfants, Tunis, Tunisia
Skeletal Radiol 34:364-6. 2005..We report a 13-year-old girl with SSS and a midline unsegmented bar running along the spinal processes of T3 to L2 and extending into the posterior vertebral elements...
- Elements of morphology: standard terminology for the hands and feetLeslie G Biesecker
National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 4472, USA
Am J Med Genet A 149:93-127. 2009..Here we introduce the anatomy of the hands and feet and define and illustrate the terms that describe the major characteristics of the hands and feet...
- Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism?Muriel Girard
Pediatric Hepatology Bicêtre University Hospital, AP HP, Paris France
Am J Med Genet A 135:186-9. 2005..We hypothesize that the association of both disorders may not be fortuitous and reinforces the idea that AOS and HPS may share a vascular thrombotic mechanism...
- Mid-term results of one-stage surgical correction of congenital vertical talusP G Mathew
Department of Orthopaedic Surgery, University Hospital, Charles University, Faculty of Medicine, Hradec Kralove, Czech Republic
Bratisl Lek Listy 110:390-3. 2009..The aim of this study was to evaluate the mid-term clinical and radiological results of one-stage surgical correction in children with congenital vertical talus...
- [Minimally invasive treatment of congenital foot deformities in infants: new findings and midterm-results]O Eberhardt
Orthopadische Klinik, Olgahospital Stuttgart, Bismarckstr 8, 70176, Stuttgart, Deutschland
Orthopade 42:1001-7. 2013..Especially in non-idiopathic vertical talus cases open reduction of the talonavicular and calcaneocuboid joint are often necessary...
- Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4E Steichen-Gersdorf
Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria
Clin Genet 74:560-5. 2008..Haploinsufficiency for LAF4/AFF3 is associated with limb, brain and urogenital malformations and specific changes of the tibia that are part of the NS spectrum...
- Keipert syndrome: two further cases and review of the literatureSerena Nik-Zainal
Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
Clin Dysmorphol 17:169-75. 2008
- Brachydactyly A1: new relatives for old families?Santhosh Girirajan
Department of Human Genetics, P O Box 980441, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA
J Genet 84:95-8. 2005
- Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactylyElisabeth M Lodder
Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
Chromosome Res 17:737-44. 2009....
- Lengthening procedures of small bones of foot and foot stumpVuslat Sema Unal
Ankara Numune Education and Training Hospital, Department of Orthopaedics and Traumatology, The First Clinic, Ankara, Turkey
Acta Orthop Belg 71:321-7. 2005..Twelve cases underwent a lengthening procedure of small bones of the foot in our clinic since 1995 to lengthen the foot or a foot stump. Results were satisfactory...
- First cuneiform osteotomy alters hindfoot architectureElke Viehweger
Pediatric Orthopaedic Department, Timone Children s University Hospital, Marseille, France
Clin Orthop Relat Res 441:356-65. 2005Three-dimensional concepts underlie various congenital foot deformities in the midfoot. We wondered whether the first cuneiform osteotomy, usually indicated for forefoot correction, had an effect on the hindfoot...
- [Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B]Wei Yang
Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College Chinese Academy of Medical Sciences, Beijing, PR China
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21:61-3. 2004..To identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB)...
- Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairmentChristine M Armour
Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
Am J Med Genet A 149:2254-7. 2009..He has moderate cognitive handicap and pervasive developmental delay. A detailed comparison of this patient with the earlier described cases is presented to further delineate the condition and increase awareness of this syndrome...
- An eight-toed foot: a rare pedal polydactylyMohamed El-Shazly
Plastic Surgery Department, Assiut University Hospital, Assiut, Egypt
J Foot Ankle Surg 46:207-9. 2007..The patient had presented a good postoperative result. Through monthly follow-up visits for 1 year, the parents expressed excellent cosmesis, shoe fit, and walking function...
- [Hand-foot-genital syndrome]Hiroshi Mitsubuchi
Department of Pediatrics, Faculty of Medical and Pharmaceutical Sciences, Kumamoto University
Nihon Rinsho . 2006
- [One family investigation and pathogeny research on ectrodactyly, absence of radius side part palm and split foot malformation]Zhou jun Hu
Chenzhou Maternity and Child Health Hospital, Chenzhou, Hunan, 423000 P R China
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21:482-4. 2004..The paper is a study on the clinical symptoms and pathogeny of ectrodactyly and absence of radius side part palm and split foot malformation of some patients in one family...
- Techniques for small-bone lengthening in congenital anomalies of the hand and footJ Minguella
Unidad Malformaciones de las Extremidades, , Barcelona, Spain
J Pediatr Orthop B 10:355-9. 2001..1%; and in the one-stage group, the length gained ranged from 7 mm to 15 mm, and the average percentage of lengthening was 43%. The overall complication rate was 22.5%...
- Ectrodactyly ectodermal dysplasia-clefting syndrome with hematocolpometra presenting as acute urinary retentionChung Chang Shen
Department of Obstetrics and Gynecology, Chang Gung University, Chang Gung Memorial Hospital, 4F 4, 123 6 Ta Pei Road, Niao Sung Hsiang, Kaohsiung County, Taiwan, ROC
Acta Obstet Gynecol Scand 81:894-5. 2002
- VATER--tibia aplasia association: report on two patientsLiesbeth Spruijt
Departments of Clinical Genetics, University Hospital Leuven, Leuven, Belgium
Clin Dysmorphol 11:283-7. 2002..The congenital defects of the children can be regarded as an uncommon variant of VA(C)TER(L) association. Recently Basel and Goldblatt [(2000) Clin Dysmorphol 9:205-208] reported a similar patient with a VATER-tibia aplasia association...
- Prenatal diagnosis of acrania associated with facial defects, amniotic bands and limb-body wall complexC P Chen
Ultrasound Obstet Gynecol 20:94-5. 2002
- Early amniocentesis and congenital foot deformitiesA Nikkilä
Department of Obstetrics and Gynaecology, Lund University Hospital, Lund, Sweden
Fetal Diagn Ther 17:129-32. 2002..These studies have comprised amniocenteses performed before 13 completed gestational weeks. In this study, the risk of foot deformities after amniocentesis performed at 12-14 completed gestational weeks was determined...
- Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disordersM Tartaglia
Laboratorio di Biologia Cellulare, Istituto Superiore di Sanita, Rome, Italy
Hum Genet 101:47-50. 1997..This finding indicates the genetic homogeneity of the "heterogeneous" Jackson-Weiss phenotype and a common molecular basis for these apparently "clinically distinct" craniosynostotic disorders...
- A critical analysis of the Roelfsema and Cobben severity score in EEC syndromeFrédéric Menu
Plast Reconstr Surg 110:1199-200. 2002
- Congenital bilateral perisylvian syndrome associated with congenital constriction band syndromeHideo Yamanouchi
Department of Pediatrics, Dokkyo University School of Medicine, Tochigi, Japan
J Child Neurol 17:448-50. 2002..We believe that the combination of these two malfornative disorders was not coincidental; instead, fetal circulatory disturbance related to chronic abruptio placentae could account for this combination...
- Congenital longitudinal deficiency of the tibiaP L Schoenecker
Shriners Hospital for Crippled Children, St Louis, Missouri 63131
J Bone Joint Surg Am 71:278-87. 1989..In four limbs that had a Type-3 or Type-4 deficiency, the foot was retained...
- [Preservation of the foot in a five-year-old child with bilateral congenital deficiency of the tibia]Hasan Bombaci
Department of Orthopedics and Traumatology 1 Ortopedi ve Travmatoloji Kliniği, Haydarpasa Numune Training and Research Hospital, Uskudar, Istanbul, Turkey
Acta Orthop Traumatol Turc 40:329-33. 2006..At the end of a six-year treatment and follow-up, walking was achieved despite some degree of limping...
- Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndromeFrancesco Brancati
CSS IRCCS, Mendel Institute, Rome, Italy
Am J Med Genet A 146:1622-3. 2008
- The adult clubfoot (congenital pes cavus)Arthur K Walling
Florida Orthopaedic Institute, Temple Terrace, FL 33637, USA
Foot Ankle Clin 13:307-14, vii. 2008..More rigid deformities require fusions with their associated functional loss, in an attempt to obtain a plantigrade foot...
- Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC)S Janssens
Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
Genet Couns 19:433-7. 2008..R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis...
- Holt-Oram syndrome associated with anomalies of the feetL Garavelli
Clinical Genetics Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy
Am J Med Genet A 146:1185-9. 2008..We discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis...
- [Clinical signs and diagnosis of hallux valgus]Damian Jezussek
Abt für Orthopädische Chirurgie, Klinikum Neumarkt, Akademisches Lehrkrankenhaus der Friedrich Alexander Universität Erlangen Nürnberg
MMW Fortschr Med 148:33-4, 36. 2006..On the a.p. film the hallux valgus angle and the intermetatarsal (rays 1/2) angle can be determined...
- HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINSJEFFREY INNIS; Fiscal Year: 2004..We will inject these modified ES cells into blastocysts to create chimeric mice, obtain germline transmission of the mutant alleles, and characterize the limb phenotypes associated with these mutations. ..
- Genetic Mechanisms of Vertebrate Caudal Limb Field SpecificationJEFFREY INNIS; Fiscal Year: 2007..Public Health: This work will have broad significance to our understanding of embryonic development as well as the basis for very common human birth defects involving caudal structures and limbs. [unreadable] [unreadable] [unreadable]..
- Intrnational Clubfoot SymposiumJose Morcuende; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Genetic Mapping of Familial Idiopathic ScoliosisJose Morcuende; Fiscal Year: 2008..unreadable] [unreadable] [unreadable] [unreadable]..