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

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

Research output: Contribution to journalArticle

12 Citations (Scopus)

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 - 1979
Externally publishedYes

Fingerprint

Contracture
Intellectual Disability
Osteoporosis
Siblings
Hand
Delayed Puberty
Prader-Willi Syndrome
Muscle Hypotonia
Glucose Intolerance
Obesity

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies. / Urban, Maria D.; Rogers, John G.; Meyer, Walter.

In: The Journal of pediatrics, Vol. 94, No. 1, 1979, p. 52-55.

Research output: Contribution to journalArticle

Urban, Maria D. ; Rogers, John G. ; Meyer, Walter. / Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies. In: The Journal of pediatrics. 1979 ; Vol. 94, No. 1. pp. 52-55.
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