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

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

doi:10.1016/S0022-3476(79)80349-2

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

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

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

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 language	English (US)
Pages (from-to)	52-55
Number of pages	4
Journal	The Journal of Pediatrics
Volume	94
Issue number	1
DOIs	https://doi.org/10.1016/S0022-3476(79)80349-2
State	Published - Jan 1979
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(79)80349-2

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

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.",

author = "Urban, {Maria D.} and Rogers, {John G.} and Meyer, {Walter J.}",

note = "Funding Information: From the Department of Pediatrics, Division of Pediatric Endocrinology and the Department of Medicine, Division of Medical Genetics, Johns Hopkins University School of Medicine, Johns Hopkins Hospital. The patients were studied on the Clinical Research Center of the Department of Pediatrics, Johns Hopkins School of Medicine, supported by Grant 5-MOI-RR-O052 from the General Clinical Research Centers Program of the Division of Research Resources, National Institutes of Health. *Reprint address: Division of Pediatric Endocrinology, Department of Pediatrics, University of Texas Medical Branch. Galveston, TX 77.550.",

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doi = "10.1016/S0022-3476(79)80349-2",

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AU - Urban, Maria D.

AU - Rogers, John G.

AU - Meyer, Walter J.

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PY - 1979/1

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N2 - 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.

AB - 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.

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

Abstract

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