Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)
Jalaguier, J.; Montoya, F.; Germain, M.; Bonnet, H.
Journal de Genetique Humaine 31(Suppl 5): 385-395
1983
ISSN/ISBN: 0021-7743 PMID: 6674414 Document Number: 197403
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.