New syndrome: Mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low‐set ears associated with joint and scrotal anomalies
Identifieur interne : 005335 ( Istex/Checkpoint ); précédent : 005334; suivant : 005336New syndrome: Mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low‐set ears associated with joint and scrotal anomalies
Auteurs : Laurie H. Seaver [États-Unis] ; Suzanne B. Cassidy [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1991-12-15.
Abstract
We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low‐set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyperextensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.
Url:
DOI: 10.1002/ajmg.1320410404
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