Laurence-Moon-Biedl syndrome: report of two cases.

H. S. Lin, Tzou-Yien Lin

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2 Citations (Scopus)

Abstract

The Laurence-Moon-Biedl syndrome is characterized by features of familial occurrence, retinitis pigmentosa, obesity, polydactyly, hypogenitalism and mental retardation. Recently, several reports have suggested renal abnormalities as an additional cardinal feature of the syndrome. We present two cases of this syndrome from two different families. The first case was an obese eight-year-old girl with poor vision and signs of mental retardation beginning at four months of age. An intravenous urogram showed dilatation of the minor calyces of both kidneys. Genital agenesis and typical retinitis pigmentosa on fundal examination all supported the diagnosis of Laurence-Moon-Biedl syndrome. The patient's father and grandmother also had symptoms of poor vision, mental retardation and obesity. The second case was an obese 14-year-old girl with blurred vision and severe mental retardation noticed at two to three months of age. Fundi showed typical retinitis pigmentosa. She also had genital agenesis but no significant family history.

Original languageEnglish
Pages (from-to)904-906
Number of pages3
JournalJournal of the Formosan Medical Association = Taiwan yi zhi
Volume92
Issue number10
Publication statusPublished - Oct 1 1993
Externally publishedYes

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Laurence-Moon Syndrome
Intellectual Disability
Retinitis Pigmentosa
Obesity
Polydactyly
Kidney
Urography
Fathers
Dilatation

ASJC Scopus subject areas

  • Medicine(all)

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Laurence-Moon-Biedl syndrome : report of two cases. / Lin, H. S.; Lin, Tzou-Yien.

In: Journal of the Formosan Medical Association = Taiwan yi zhi, Vol. 92, No. 10, 01.10.1993, p. 904-906.

Research output: Contribution to journalArticle

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