| Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings. | |
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MedLine Citation:
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PMID: 8469589 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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T E Herman; M J Siegel; B C Lee; S B Dowton |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric radiology Volume: 23 ISSN: 0301-0449 ISO Abbreviation: Pediatr Radiol Publication Date: 1993 |
Date Detail:
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Created Date: 1993-05-13 Completed Date: 1993-05-13 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0365332 Medline TA: Pediatr Radiol Country: GERMANY |
Other Details:
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Languages: eng Pagination: 37-40 Citation Subset: IM |
Affiliation:
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Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Mo. 63110. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Fingers / abnormalities Humans Infant, Newborn Lipoma / congenital* Magnetic Resonance Imaging Male Pituitary Neoplasms / congenital* Pseudohermaphroditism / diagnosis* Syndrome Toes / abnormalities |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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