LETHAL FEMORAL-FACIAL SYNDROME - A CASE WITH UNUSUAL MANIFESTATIONS

Citation
Y. Gillerot et al., LETHAL FEMORAL-FACIAL SYNDROME - A CASE WITH UNUSUAL MANIFESTATIONS, Journal of Medical Genetics, 34(6), 1997, pp. 518-519
Citations number
8
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
34
Issue
6
Year of publication
1997
Pages
518 - 519
Database
ISI
SICI code
0022-2593(1997)34:6<518:LFS-AC>2.0.ZU;2-8
Abstract
The femoral-facial syndrome is a very rare syndrome of uncertain inher itance comprising hypoplastic femora, microretrognathia, and a peculia r facies. We report an additional observation detected by ultrasound a t 25 weeks and diagnosed at birth. In addition to the malformations us ually described in this syndrome, there were heterotopias of the brain , partial agenesis of the corpus callosum, bilobed lungs, intestinal m alrotation, and vertebral segmentation defects.