Neonatal death in Marshall-Smith syndrome.
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.
Chatel
C
C
Département de Génétique Médicale Hôpital d'Enfants de la Timone, Marseille, France.
Maazoul
F
F
Sigaudy
S
S
Fredouille
C
C
Ayme
S
S
Philip
N
N
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000365:Age Determination by Skeleton; D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn