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  • Title: Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.
    Author: Herman TE, Siegel MJ, Lee BC, Dowton SB.
    Journal: Pediatr Radiol; 1993; 23(1):37-40. PubMed ID: 8469589.
    Abstract:
    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.
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