Popliteal pterygium associated with neonatal Marfan syndrome: case report.
This report describes the case of a male infant with neonatal Marfan syndrome who also exhibited popliteal pterygia. The patient's father had classic Marfan syndrome. The differential diagnosis in the neonatal case included congenital contractural arachnodactyly (Beals syndrome) and various forms of popliteal pterygium syndrome. We note the diagnostic features of the case, discuss the novel finding of pterygia in association with neonatal Marfan syndrome, and highlight the possible role of collagen defects in the pathogenesis of limb pterygia.
Derbent
M
M
Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey.
Gurakan
B
B
Saygil
A
A
Baltaci
V
V
Balci
S
S
D000015:Abnormalities, Multiple / Q000473:pathology*; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D007866:Leg / Q000002:abnormalities*; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology*