Neonatal death in Marshall-Smith syndrome
Chatel, C.; Maazoul, F.; Sigaudy, S.; Fredouille, C.; Ayme, S.; Philip, N.
Genetic Counseling 9(1): 15-18
1998
ISSN/ISBN: 1015-8146 PMID: 9555581 Document Number: 492206
Marshall-Smith syndrome is characterized by accelerated skeletal maturation, failure to thrive and dysmorphic features. Since 1971, twenty cases of MSS have been reported. We describe another patient with a very early death demonstrating the clinical variability of the syndrome and the importance of systematic X rays of the skeleton for determining the causes of fetal or neonatal death.