Literature DB >> 8411055

Campomelic dysplasia: evidence of autosomal dominant inheritance.

S A Lynch1, M L Gaunt, A M Minford.   

Abstract

We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.

Entities:  

Mesh：

Year:  1993        PMID： 8411055      PMCID： PMC1016499          DOI： 10.1136/jmg.30.8.683

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


  6 in total

1.  Letter: Camptomelic syndrome in siblings.

Authors:  T Shafai
Journal:  J Pediatr       Date:  1976-09       Impact factor: 4.406

2.  Autosomal recessive inheritance in camptomelic dwarfism.

Authors:  B J Cremin; G Orsmond; P Beighton
Journal:  Lancet       Date:  1973-03-03       Impact factor: 79.321

3.  Congenital bowing of the long bones in two sisters.

Authors:  A Stüve; H R Wiedemann
Journal:  Lancet       Date:  1971-08-28       Impact factor: 79.321

4.  Familial camptomelic dwarfism.

Authors:  T F Thurmon; E B DeFraites; E E Anderson
Journal:  J Pediatr       Date:  1973-11       Impact factor: 4.406

5.  Campomelic dysplasia. Further elucidation of a distinct entity.

Authors:  B D Hall; J W Spranger
Journal:  Am J Dis Child       Date:  1980-03

Review 6.  The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

Authors:  C S Houston; J M Opitz; J W Spranger; R I Macpherson; M H Reed; E F Gilbert; J Herrmann; A Schinzel
Journal:  Am J Med Genet       Date:  1983-05
  6 in total
  3 in total

1.  Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Authors:  Katherine L Hill-Harfe; Lee Kaplan; Heather J Stalker; Roberto T Zori; Ramona Pop; Gerd Scherer; Margaret R Wallace
Journal:  Am J Hum Genet       Date:  2005-04       Impact factor: 11.025

2.  Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

Authors:  S Kantarci; D Casavant; C Lee; V Kimonis; B R Pober; C Prada; M Russell; J Byrne; L Wilkins Haug; R Jennings; S Manning; T K Boyd; J P Fryns; L B Holmes; P K Donahoe
Journal:  Am J Med Genet A       Date:  2006-01-01       Impact factor: 2.802

3.  A clinical and genetic study of campomelic dysplasia.

Authors:  S Mansour; C M Hall; M E Pembrey; I D Young
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318
  3 in total

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