CONGENITAL CUTIS LAXA WITH LIGAMENTOUS LAXITY AND DELAYED DEVELOPMENT, DANDY-WALKER MALFORMATION AND MINOR HEART AND OSSEOUS DEFECTS

Citation
A. Biver et al., CONGENITAL CUTIS LAXA WITH LIGAMENTOUS LAXITY AND DELAYED DEVELOPMENT, DANDY-WALKER MALFORMATION AND MINOR HEART AND OSSEOUS DEFECTS, Clinical genetics, 45(6), 1994, pp. 318-322
Citations number
28
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
45
Issue
6
Year of publication
1994
Pages
318 - 322
Database
ISI
SICI code
0009-9163(1994)45:6<318:CCLWLL>2.0.ZU;2-O
Abstract
We present a female infant exhibiting congenital cutis laxa with retar dation of growth and motor development, ligamentous laxity and congeni tal dislocation of the hips. This connective tissue disorder was assoc iated with Dandy-Walker malformation, atrial and ventricular defect an d minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This associa tion is believed to be unique.