Literature DB >> 6507494

Familial recurrence of geleophysic dysplasia.

C P Koiffmann, A Wajntal, M J Ursich, A A Pupo.   

Abstract

We describe a girl with the manifestations of geleophysic dwarfism: small stature, a peculiar but pleasant and good-natured facial appearance, a dysostosis-multiplex-like bone dysplasia affecting predominantly hands and feet, hepatomegaly and stenosis, and insufficiency of the aortic valve. The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small hands.

Entities:  

Mesh:

Year:  1984        PMID: 6507494     DOI: 10.1002/ajmg.1320190309

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Acromicric dysplasia and geleophysic dysplasia: similarities and differences.

Authors:  R C Hennekam; Y van Bever; J W Oorthuys
Journal:  Eur J Pediatr       Date:  1996-04       Impact factor: 3.183

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.