Abstract
Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 586-590 |
| Number of pages | 5 |
| Journal | The Journal of pediatrics |
| Volume | 97 |
| Issue number | 4 |
| DOIs | |
| State | Published - 1980 |
Fingerprint
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures. / Brosnan, Patrick G.; Lewandowski, Ray C.; Toguri, Allan G.; Payer, Andrew F.; Meyer, Walter.
In: The Journal of pediatrics, Vol. 97, No. 4, 1980, p. 586-590.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures
AU - Brosnan, Patrick G.
AU - Lewandowski, Ray C.
AU - Toguri, Allan G.
AU - Payer, Andrew F.
AU - Meyer, Walter
PY - 1980
Y1 - 1980
N2 - Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.
AB - Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.
UR - http://www.scopus.com/inward/record.url?scp=0019156774&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0019156774&partnerID=8YFLogxK
U2 - 10.1016/S0022-3476(80)80013-8
DO - 10.1016/S0022-3476(80)80013-8
M3 - Article
C2 - 6158563
AN - SCOPUS:0019156774
VL - 97
SP - 586
EP - 590
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 4
ER -