Literature DB >> 7205902

A family with diaphyseal aclasis and peripheral dysostosis.

A P Brooks, R Wynne-Davies.   

Abstract

Autosomal dominant inheritance of a type of peripheral dysostosis occurred in a family with diaphyseal aclasis. The features of their type of peripheral dysostosis were short limbed short stature, normal intelligence, very stubby fingers, flat face and nose, shortened metacarpals and terminal phalanges, thickened beaten-copper skull vault, and advanced skeletal maturation.

Entities:  

Mesh：

Year:  1980        PMID： 7205902      PMCID： PMC1048569          DOI： 10.1136/jmg.17.4.277

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


  6 in total

1.  Bone growth in diaphysial aclasis.

Authors:  L SOLOMON
Journal:  J Bone Joint Surg Br       Date:  1961-11

2.  Shelf operation in congenital dysplasia of the acetabulum and in subluxation and dislocation of the hip.

Authors:  G WIBERG
Journal:  J Bone Joint Surg Am       Date:  1953-01       Impact factor: 5.284

3.  Acetabular dysplasia and familial joint laxity: two etiological factors in congenital dislocation of the hip. A review of 589 patients and their families.

Authors:  R Wynne-Davies
Journal:  J Bone Joint Surg Br       Date:  1970-11

4.  Acromesomelic dwarfism: manifestations in childhood.

Authors:  L O Langer; R K Beals; I L Solomon; P A Bard; L A Bard; E M Rissman; J G Rogers; J P Dorst; J G Hall; R S Sparkes; E A Franken
Journal:  Am J Med Genet       Date:  1977

5.  Hereditary peripheral dysostosis (three cases).

Authors:  R K Bachman
Journal:  Proc R Soc Med       Date:  1967-01

6.  Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.

Authors:  M Robinow; R A Pfeiffer; R J Gorlin; V A McKusick; A W Renuart; G F Johnson; R L Summitt
Journal:  Am J Dis Child       Date:  1971-03
  6 in total

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