New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.

doi:10.1002/ajmg.1320410404

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Article

New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.

American journal of medical genetics - 15 Dec 1991

Seaver L H, Cassidy S B

Abstract excerpt

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 scr...

Topics

Abnormalities, Multiple
Adult
Child, Preschool
Facial Bones
Female
Humans
Hypertelorism
Joints
Male
Noonan Syndrome
Phenotype
Scrotum
Skull
Syndrome

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