Apparently previously undescribed X-linked dominant syndrome with facial and skeletal anomalies.
We report on a syndrome of widow's peak, ptosis, skeletal abnormalities and other minor anomalies in a large family. The condition appears to be inherited in an X-linked dominant fashion. No similar cases have been found in the literature, suggesting that this is a "new" syndrome. Study of 5 generations of the family documents information on the natural history of the condition.
Kapur
S
S
Department of Pediatrics, College of Human Medicine, Michigan State University, East Lansing 48824-1317.
Swinford
A
A
Freimanis
A K
AK
Lachman
R S
RS
D000293:Adolescent; D000328:Adult; D000368:Aged; D001168:Arthritis / Q000150:complications; D001842:Bone and Bones / Q000002:abnormalities*; D004550:Elbow; D005528:Foot; D008040:Genetic Linkage; D006615:Hip; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014953:Wrist; D014960:X Chromosome