Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.
A phenotypically female infant with 46-XY chromosomes was found to have Smith-Lemli-Opitz syndrome, type II a rare congenital malformation syndrome with many features of the more common classic Smith-Lemli-Opitz syndrome. The patient's skeletal survey revealed characteristic and previously undescribed skeletal anomalies which are reported. In addition a lipoma of the pituitary gland was found on magnetic resonance imaging. This lesion is particularly interesting given the hypothesized steroid abnormality in Smith-Lemli-Opitz, type II syndrome, the sexual ambiguity of males with this syndrome and the similarity of this syndrome to the Pallister-Hall syndrome which characteristically has a hamartoblastoma of the hypothalamus.
Herman
T E
TE
Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Mo. 63110.
Siegel
M J
MJ
Lee
B C
BC
Dowton
S B
SB
D000015:Abnormalities, Multiple; D012734:Disorders of Sex Development / Q000175:diagnosis*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008067:Lipoma / Q000151:congenital*; D008279:Magnetic Resonance Imaging; D008297:Male; D010911:Pituitary Neoplasms / Q000151:congenital*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities