Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family.

European journal of pediatrics ·Vol. 123 ·No. 4 ·1976-11-03 ·Pages 269-76

Endo M, Tasaka Y, Matsuura N, Matsuda I

Abstract

Mental retardation, hypogonadism, obesity, and abnormal blood sugar regulation were common findings in two siblings. In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent. Possible consideration was discussed.

MeSH Terms

Adolescent Child Female Humans Hypogonadism/complications Intellectual Disability/complications Laurence-Moon Syndrome/complications,genetics Male Obesity/complications Pedigree Prader-Willi Syndrome/complications,genetics

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Endo M

Tasaka Y

Matsuura N

Matsuda I

References (12)

12 references, click to expand

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Laurence-Moon-Bardet-Biedl syndrome in Israel.
Am J Ophthalmol. 1970 Oct;70(4):524-32 PMID: 5505470
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Am J Dis Child. 1968 May;115(5):588-98 PMID: 5645106
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Article Info

Journal

European journal of pediatrics

Abbr.

Eur J Pediatr

ISSN

0340-6199

DOI

10.1007/BF00444648

Published

1976-11-03

Pages

269-76

Language

English

Region

Germany

NLM ID

7603873

Subset

External Links

PubMed source DOI: 10.1007/BF00444648 View journal details

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Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family.

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