Smith-Lemli-Opitz syndrome type II: Report of a case with additional radiographic findings

T. E. Herman*, M. J. Siegel, B. C.P. Lee, S. B. Dowton

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)37-40
Number of pages4
JournalPediatric Radiology
Volume23
Issue number1
DOIs
Publication statusPublished - Mar 1993
Externally publishedYes

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