Neonatal death in Marshall-Smith syndrome

C Chatel; F Maazoul; S Sigaudy; C Fredouille; S Ayme; N Philip

Neonatal death in Marshall-Smith syndrome

Genet Couns. 1998;9(1):15-8.

Authors

C Chatel¹, F Maazoul, S Sigaudy, C Fredouille, S Ayme, N Philip

Affiliation

¹ Département de Génétique Médicale Hôpital d'Enfants de la Timone, Marseille, France.

PMID: 9555581

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Age Determination by Skeleton*
Bone Diseases, Developmental / genetics*
Bone Diseases, Developmental / pathology
Bone and Bones / pathology
Craniofacial Abnormalities / genetics*
Craniofacial Abnormalities / pathology
Fatal Outcome
Female
Fetal Death / genetics*
Fetal Death / pathology
Humans
Infant, Newborn