Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies

Maria D. Urban, John G. Rogers, Walter J. Meyer

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Abstract

Two teen-age XY brothers with mental retardation, short stature, obesity, genital abnormalities, and contractures of their hands are described. They have generalized osteoporosis and a history of frequent fractures. Their endocrinologic evaluation was normal except for mild glucose intolerance and delayed, but normal puberty. Although these brothers are similar to individuals with Prader-Willi syndrome, their unusual hand contractures, clinically significant osteoporosis, and lack of hypotonia indicate that they represent a different entity.

Original languageEnglish (US)
Pages (from-to)52-55
Number of pages4
JournalThe Journal of Pediatrics
Volume94
Issue number1
DOIs
StatePublished - Jan 1979

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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