Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Indian Pediatr ; 46(4): 349-51, 2009 Apr.
Article in English | MEDLINE | ID: mdl-19383993

ABSTRACT

We report three cases of Restrictive dermopathy from unrelated families. All were small for gestational age with small eyes and open mouth. Taut, stretched skin caused restriction of movements. Clavicular hypoplasia was a consistent radiological feature. Molecular diagnosis in the parents facilitated prenatal diagnosis from chorionic villous sample (CVS) in the subsequent pregnancy.


Subject(s)
Contracture/diagnosis , Membrane Proteins/genetics , Metalloendopeptidases/genetics , Mutation/genetics , Prenatal Diagnosis , Skin Abnormalities/diagnosis , Skin Abnormalities/genetics , Contracture/congenital , Female , Genetic Testing , Humans , Infant, Newborn
SELECTION OF CITATIONS
SEARCH DETAIL
...