PRENATAL GROWTH-RETARDATION, PELVIC HYPOPLASIA, AND ARTHROGRYPOTIC CHANGES OF LOWER-LIMBS - A DISTINCT AUTOSOMAL-RECESSIVE DISORDER

Citation
A. Sarralde et al., PRENATAL GROWTH-RETARDATION, PELVIC HYPOPLASIA, AND ARTHROGRYPOTIC CHANGES OF LOWER-LIMBS - A DISTINCT AUTOSOMAL-RECESSIVE DISORDER, American journal of medical genetics, 75(5), 1998, pp. 453-460
Citations number
14
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
75
Issue
5
Year of publication
1998
Pages
453 - 460
Database
ISI
SICI code
0148-7299(1998)75:5<453:PGPHAA>2.0.ZU;2-5
Abstract
We report on 5 sibs (4 males, 1 female) with growth retardation, sever e pelvic hypoplasia, arthrogrypotic changes and muscular hypotrophy of the lower limbs, and mild vertebral changes of prenatal onset, To our knowledge, this syndrome has not yet been reported. The family histor y suggests autosomal-recessive inheritance.