Marshall-Smith syndrome: case report of a newborn male and review of the literature.
Marshall-Smith syndrome is a rare congenital condition, characterized by advanced bone age, facial anomalies and relative failure to thrive. We report a newborn male with Marshall-Smith syndrome and summarize 21 previously reported cases. We report cerebellar hypoplasia in our patient, which has not been previously reported in subjects with this rare syndrome. This patient's findings broaden the phenotypic spectrum seen in Marshall-Smith syndrome.
Summers
D A
DA
Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, USA.
Cooper
H A
HA
Butler
M G
MG
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005183:Failure to Thrive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome