| Literature DB >> 6674414 |
J Jalaguier, F Montoya, M Germain, H Bonnet.
Abstract
This paper relates two cases of a complex syndrome with unusual facies, restricted articular movements and accelerated skeletal maturation (already present at birth) in two siblings (brother and sister). These infants died in early age: one was ten days, the other six weeks old. Clinical and radiological findings of these newborns are part of both the Marshall-Smith and the Weaver syndrome, suggesting that these syndromes are one entity. The observation of affected siblings from unaffected parents favors autosomal recessive inheritance.Entities:
Mesh:
Year: 1983 PMID: 6674414
Source DB: PubMed Journal: J Genet Hum ISSN: 0021-7743