Literature DB >> 7254925

Werner's mesomelic dysplasia with ventricular septal defect and Hirschsprung's disease.

C M Hall.   

Abstract

A child with Werner's mesomelic dysplasia is presented. She has five fingers on each hand with absent thumbs and seven toes on each foot. There is posterior dislocation at the knees and mild tibial dysplasia. The child also has a ventricular septal defect (VSD) and Hirschsprung's disease. This is the first case reported of Werner's mesomelic dysplasia associated with systemic malformations.

Entities:  

Mesh:

Year:  1981        PMID: 7254925     DOI: 10.1007/bf01001593

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  4 in total

1.  Mesomelic skeletal dysplasias.

Authors:  I Kaitila; J T Leisti; D L Rimoin
Journal:  Clin Orthop Relat Res       Date:  1976 Jan-Feb       Impact factor: 4.176

2.  A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations.

Authors:  O Yujnovsky; D Ayala; A Vincitorio; H Viale; N Sakati; W L Nyhan
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

3.  [Agenesia of the tibia, duplication of the fibula and mirror foot (diplopodia) in mother and child].

Authors:  R A Pfeiffer; M Roeskau
Journal:  Z Kinderheilkd       Date:  1971

4.  Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter.

Authors:  H Pashayan; F C Fraser; J M McIntyre; J S Dunbar
Journal:  J Bone Joint Surg Br       Date:  1971-08
  4 in total
  1 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.