Literature DB >> 3200664

[The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate].

N Philip1, P Garcia-Meric, F Wernert.   

Abstract

A new case of congenital contracture arachnodactyly (CCA) revealed in the neonatal period is reported. CCA is a dominantly inherited syndrome associating arachnodactyly, kyphoscoliosis, multiple congenital joint contractures and crumpled ears. This condition differs from Marfan's syndrome by the usual absence of visceral involvement, although cardiac complications are possible. The neonatal forms result from new mutations are are generally severe.

Entities:  

Mesh:

Year:  1988        PMID: 3200664

Source DB:  PubMed          Journal:  Pediatrie        ISSN: 0031-4021


  2 in total

1.  Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype.

Authors:  D Bonneau; J L Huret; G Godeau; D Couet; M Putterman; J Tanzer; P Babin; M Larrègue
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

2.  A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family.

Authors:  Shiyuan Zhou; Fengyu Wang; Yongheng Dou; Jiping Zhou; Gefang Hao; Chengqi Xu; Qing K Wang; Haili Wang; Pengyun Wang
Journal:  Clin Case Rep       Date:  2018-07-03
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.