SPLIT HAND SPLIT FOOT DEFORMITY AND LADD SYNDROME IN A FAMILY - OVERLAP BETWEEN THE EEC AND LADD SYNDROMES

Citation
D. Lacombe et al., SPLIT HAND SPLIT FOOT DEFORMITY AND LADD SYNDROME IN A FAMILY - OVERLAP BETWEEN THE EEC AND LADD SYNDROMES, Journal of Medical Genetics, 30(8), 1993, pp. 700-703
Citations number
17
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
30
Issue
8
Year of publication
1993
Pages
700 - 703
Database
ISI
SICI code
0022-2593(1993)30:8<700:SHSFDA>2.0.ZU;2-A
Abstract
A mother and daughter are reported with apparently dissimilar syndrome s. The mother has a split hand/split foot deformity and the daughter a condition consistent with a diagnosis of LADD syndrome. Absence of cl efting and deficient formation of saliva and tears are the main signs that differentiate the LADD from the EEC syndrome. However, no distinc t feature is constant between these two autosomal dominant disorders t hat show great phenotypic variability. This report emphasises the over lap between the LADD and the EEC syndromes.