Literature DB >> 671485

Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome.

D O Sillence.   

Abstract

Five members of a kindred with brachydactyly and distal symphalangism, normal stature, pes cavus, and scoliosis were ascertained. The pedigree was consistent with autosomal dominant inheritance. The combination of clinical and radiological features is believed to be distinct from those previously reported in patients with brachydactyly/symphalangism.

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Mesh:

Year:  1978        PMID: 671485      PMCID: PMC1013678          DOI: 10.1136/jmg.15.3.208

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  2 in total

1.  Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification.

Authors:  J Herrmann
Journal:  Birth Defects Orig Artic Ser       Date:  1974

2.  Familial (idiopathic) scoliosis. A family survey.

Authors:  R Wynne-Davies
Journal:  J Bone Joint Surg Br       Date:  1968-02
  2 in total
  2 in total

1.  Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia.

Authors:  M D Crawfurd; P Saldaña-Garcia
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318

2.  Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Authors:  Ashley M Byrnes; Lemuel Racacho; Allison Grimsey; Louanne Hudgins; Andrea C Kwan; Michel Sangalli; Alexa Kidd; Yuval Yaron; Yu-Lung Lau; Sarah M Nikkel; Dennis E Bulman
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246

  2 in total

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