[Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001846:Bone Development; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
Avance de la maturation osseuse et syndrome dysmorphique chez deux germains (Syndrome de Marshall-Weaver).