congenital foot deformities

Summary

Summary: Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.

Top Publications

  1. ncbi Musculoskeletal manifestations of Russell-Silver syndrome
    Edward Abraham
    Department of Orthopaedics, The University of Illinois College of Medicine at Chicago, Chicago, Illinois 60612, USA
    J Pediatr Orthop 24:552-64. 2004
  2. ncbi [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
  3. ncbi Limb malformations and the human HOX genes
    Frances R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, England
    Am J Med Genet 112:256-65. 2002
  4. ncbi Associated anomalies in individuals with polydactyly
    E E Castilla
    ECLAMC at Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil
    Am J Med Genet 80:459-65. 1998
  5. ncbi Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone
    R J Galjaard
    Department of Clinical Genetics, Erasmus University Rotterdam University Hospital Rotterdam, Rotterdam, Netherlands
    Am J Med Genet 98:256-62. 2001
  6. ncbi Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia
    Muhammad Faiyaz-Ul-Haque
    The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet 111:31-7. 2002
  7. ncbi 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
  8. ncbi Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG
    Klaus 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
  9. ncbi Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome
    Yanick J Crow
    Am J Med Genet A 137:233; author reply 234. 2005
  10. pmc Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome
    Noriko 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

Research Grants

  1. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2004
  2. Genetic Mechanisms of Vertebrate Caudal Limb Field Specification
    JEFFREY INNIS; Fiscal Year: 2007
  3. Intrnational Clubfoot Symposium
    Jose Morcuende; Fiscal Year: 2007
  4. Genetic Mapping of Familial Idiopathic Scoliosis
    Jose Morcuende; Fiscal Year: 2008

Detail Information

Publications185 found, 100 shown here

  1. ncbi Musculoskeletal manifestations of Russell-Silver syndrome
    Edward 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...
  2. ncbi [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...
  3. ncbi Limb malformations and the human HOX genes
    Frances 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...
  4. ncbi Associated anomalies in individuals with polydactyly
    E 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...
  5. ncbi Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone
    R 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...
  6. ncbi Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia
    Muhammad 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...
  7. ncbi 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...
  8. ncbi Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG
    Klaus 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...
  9. ncbi Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome
    Yanick J Crow
    Am J Med Genet A 137:233; author reply 234. 2005
  10. pmc Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome
    Noriko 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
    ....
  11. ncbi Brachydactylic multiple delta phalanges plus syndrome
    Christina 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...
  12. ncbi The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases
    Xavier 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...
  13. ncbi Anonychia and maxillofacial anomalies: an undefined syndrome?
    Eray Copcu
    Ann Plast Surg 56:350-1. 2006
  14. ncbi Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosis
    Bárbara 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...
  15. ncbi A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype
    Wolfram 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...
  16. ncbi 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 analysis
    Mohammed 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...
  17. ncbi Split hand-foot malformation: a congenital central limb ray deficiency
    G P Thami
    Department of Dermatology and Venereology, Government Medical College and Hospital, Sector 32, Chandigarh, India
    J Postgrad Med 48:209-10. 2002
  18. ncbi Cutis aplasia as a feature of Kabuki syndrome
    Natalie 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...
  19. ncbi Teunissen-Cremers syndrome: a clinical, surgical, and genetic report
    H 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...
  20. ncbi Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome
    R Glorio
    J Eur Acad Dermatol Venereol 17:356-8. 2003
  21. ncbi Freeman-Sheldon syndrome: a case report
    Gamze 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...
  22. ncbi The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene
    J 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...
  23. ncbi Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi
    Mariken Ruiter
    Am J Med Genet A 135:344; author reply 345. 2005
  24. ncbi Yunis-Varon syndrome
    Sameer Bhatia
    Department of Pediatrics, Army Hospital Research and Referral, Delhi Cantt 110 010, India
    Indian Pediatr 42:373-5. 2005
    ....
  25. ncbi A case report of brachydactyly types D and E: a new variation of brachydactyly
    Shaun Ridgeway
    Barnet General Hospital, London, UK
    Foot Ankle Int 25:419-22. 2004
  26. ncbi van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures
    Dania 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...
  27. ncbi [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...
  28. ncbi Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects
    J 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...
  29. ncbi Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient
    Kerstin N Walter
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Am J Med Genet A 140:649-51. 2006
  30. ncbi The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype
    Tony 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...
  31. ncbi [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...
  32. ncbi Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up
    Rainer 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...
  33. ncbi [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...
  34. ncbi Trismus-pseudocamptodactyly syndrome: a case report
    S 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...
  35. ncbi 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
  36. ncbi A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B
    Marco 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...
  37. ncbi A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
    Jeffrey 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...
  38. pmc Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
    F 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...
  39. ncbi Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
    J 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...
  40. pmc Brachydactyly
    Samia 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...
  41. ncbi The surgical management of the upper extremity anomalies associated with Du Pan syndrome
    V 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...
  42. ncbi 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...
  43. ncbi Adams-Oliver syndrome with unusual central nervous system alterations
    J 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...
  44. ncbi Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes
    Sujoy 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...
  45. ncbi Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype
    Romain 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...
  46. ncbi Mutation of HOXA13 in hand-foot-genital syndrome
    D 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...
  47. ncbi Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
    S 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...
  48. ncbi A hypothesis and model of reduced fetal movement as a common pathogenetic mechanism in clubfoot
    T 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...
  49. ncbi Preclinical symptoms of the diabetic foot
    Halil 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...
  50. ncbi Cutis marmorata telangiectatica congenita
    Nasser 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...
  51. ncbi Mandibular widening by distraction osteogenesis in the treatment of a constricted mandible and telescopic bite
    Hiroki 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...
  52. ncbi A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin
    Sajid 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...
  53. ncbi Ellis-Van Creveld syndrome with syndrome X--a rare association from the Indian subcontinent
    M 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...
  54. ncbi Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation
    Matthew 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...
  55. ncbi Use of internal callus distraction in the treatment of congenital brachymetatarsia
    Naoto 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...
  56. ncbi A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family
    Xun Hua Li
    Department of Neurology, First Affiliated Hospital, Sun Yat Sen University, Guangzhou, 510089, China
    Chin Med J (Engl) 120:834-7. 2007
  57. pmc Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot
    J Weimer
    Klinikum der Christian Albrechts Universität zu Kiel, Frauenklinik Onkologisches Labor, Michaelisstrasse 16, D 24105 Kiel, Germany
    J Med Genet 37:442-5. 2000
    ....
  58. ncbi The effect of foot orthoses on standing foot posture and gait of young children with Down syndrome
    L 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...
  59. ncbi [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...
  60. ncbi [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...
  61. ncbi Tibio-calcaneo-naviculo-cuboidale arthrodesis: 6 patients followed for 1-8 years
    Michael 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...
  62. ncbi Relative metatarsal protrusion in the adult: a preliminary study
    Gabriel 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...
  63. ncbi 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...
  64. ncbi Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2
    Andrew O M Wilkie
    Am J Med Genet 111:105. 2002
  65. ncbi [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...
  66. pmc A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy
    Anja 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...
  67. ncbi Syndrome of renal, genital and feet malformations
    S 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...
  68. ncbi Limb reconstruction using circular frames in children and adolescents with spina bifida
    S 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...
  69. ncbi Treatment of brachymetatarsia of the first and fourth ray in adults
    Woo 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...
  70. ncbi Congenital hypertrophy of the abductor digiti minimi muscle of the foot
    Thomais Iconomou
    Plast Reconstr Surg 115:1223-5. 2005
  71. ncbi 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...
  72. pmc Elements of morphology: standard terminology for the hands and feet
    Leslie 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...
  73. ncbi 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...
  74. ncbi Mid-term results of one-stage surgical correction of congenital vertical talus
    P 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...
  75. ncbi [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...
  76. ncbi Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4
    E 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...
  77. doi Keipert syndrome: two further cases and review of the literature
    Serena Nik-Zainal
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Clin Dysmorphol 17:169-75. 2008
  78. ncbi 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
  79. pmc Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly
    Elisabeth M Lodder
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Chromosome Res 17:737-44. 2009
    ....
  80. ncbi Lengthening procedures of small bones of foot and foot stump
    Vuslat 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...
  81. ncbi First cuneiform osteotomy alters hindfoot architecture
    Elke Viehweger
    Pediatric Orthopaedic Department, Timone Children s University Hospital, Marseille, France
    Clin Orthop Relat Res 441:356-65. 2005
    Three-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...
  82. ncbi [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)...
  83. ncbi Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment
    Christine 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...
  84. ncbi An eight-toed foot: a rare pedal polydactyly
    Mohamed 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...
  85. ncbi [Hand-foot-genital syndrome]
    Hiroshi Mitsubuchi
    Department of Pediatrics, Faculty of Medical and Pharmaceutical Sciences, Kumamoto University
    Nihon Rinsho . 2006
  86. ncbi [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...
  87. ncbi Techniques for small-bone lengthening in congenital anomalies of the hand and foot
    J 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%...
  88. ncbi Ectrodactyly ectodermal dysplasia-clefting syndrome with hematocolpometra presenting as acute urinary retention
    Chung 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
  89. ncbi VATER--tibia aplasia association: report on two patients
    Liesbeth 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...
  90. ncbi Prenatal diagnosis of acrania associated with facial defects, amniotic bands and limb-body wall complex
    C P Chen
    Ultrasound Obstet Gynecol 20:94-5. 2002
  91. ncbi Early amniocentesis and congenital foot deformities
    A 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...
  92. ncbi Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders
    M 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...
  93. ncbi A critical analysis of the Roelfsema and Cobben severity score in EEC syndrome
    Frédéric Menu
    Plast Reconstr Surg 110:1199-200. 2002
  94. ncbi Congenital bilateral perisylvian syndrome associated with congenital constriction band syndrome
    Hideo 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...
  95. ncbi Congenital longitudinal deficiency of the tibia
    P 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...
  96. ncbi [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...
  97. doi Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome
    Francesco Brancati
    CSS IRCCS, Mendel Institute, Rome, Italy
    Am J Med Genet A 146:1622-3. 2008
  98. ncbi 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...
  99. ncbi 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...
  100. ncbi Holt-Oram syndrome associated with anomalies of the feet
    L 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...
  101. ncbi [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...

Research Grants4

  1. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY 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. ..
  2. Genetic Mechanisms of Vertebrate Caudal Limb Field Specification
    JEFFREY 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]..
  3. Intrnational Clubfoot Symposium
    Jose Morcuende; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  4. Genetic Mapping of Familial Idiopathic Scoliosis
    Jose Morcuende; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..