Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.
We report a mother and two of her children, one female and the other male, who have ptosis, hypertelorism, epicanthic folds, downward slanting palpebral fissures, broad nasal bridge, and minor digital anomalies (fig 1); the children had delayed closure of a large anterior fontanelle. All three affected persons were born prematurely.
Shepherd
R C
RC
Department of Paediatrics, Inverclyde Royal Hospital, Greenock, Glasgow.
Goudie
D R
DR
Tolmie
J L
JL
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics