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 | |
| State | Published - 1979 |
| Externally published | Yes |
Fingerprint
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 journal › Article
}
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
PY - 1979
Y1 - 1979
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.
UR - http://www.scopus.com/inward/record.url?scp=0018305227&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0018305227&partnerID=8YFLogxK
U2 - 10.1016/S0022-3476(79)80349-2
DO - 10.1016/S0022-3476(79)80349-2
M3 - Article
C2 - 758422
AN - SCOPUS:0018305227
VL - 94
SP - 52
EP - 55
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 1
ER -