TY - JOUR
T1 - Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies
AU - Urban, Maria D.
AU - Rogers, John G.
AU - Meyer, Walter J.
N1 - 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.
PY - 1979/1
Y1 - 1979/1
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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U2 - 10.1016/S0022-3476(79)80349-2
DO - 10.1016/S0022-3476(79)80349-2
M3 - Article
C2 - 758422
AN - SCOPUS:0018305227
SN - 0022-3476
VL - 94
SP - 52
EP - 55
JO - The Journal of Pediatrics
JF - The Journal of Pediatrics
IS - 1
ER -