New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.
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, hyper-extensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.
Seaver
L H
LH
Department of Pediatrics, University of Arizona Health Sciences Center, Tucson 85724.
Cassidy
S B
SB
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007596:Joints / Q000002:abnormalities; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics; D010641:Phenotype; D012611:Scrotum / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome