Smith-Lemli-Opitz syndrome type II : report of a case with additional radiographic findings | Macquarie University ResearchOnline

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Title: Smith-Lemli-Opitz syndrome type II : report of a case with additional radiographic findings
Related: Pediatric radiology, Vol. 23, Issue 1, (1993), p.37-40
DOI: 10.1007/BF02020219
Publisher: Springer
Date: 1993
Author/Creator: Herman, T. E
Author/Creator: Siegel, M. J
Author/Creator: Lee, B. C. P
Author/Creator: Dowton, S. Bruce
Description: 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.
Description: 4 page(s)
Resource Type: journal article
Organisation: Macquarie University. Office of the Vice-Chancellor

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