Multiple pterygium syndrome.
Severely involved female child with Multiple Pterygium Syndrome (Escobar) is described. She had the typical findings of the syndrome such as multiple pterygiums, characteristic facial appearance, genital anomalies. She also had bilateral optic atrophy. This is the first case described so far with optic atrophy in Multiple Pterygium Syndrome (Escobar).
Ozkinay
F F
FF
Ege University, Faculty of Medicine, Department of Pediatrics, Bornova, Izmir, Turkey.
Ozkinay
C
C
Akin
H
H
Azarsiz
S
S
Gündüz
C
C
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001132:Arm / Q000002:abnormalities; D001284:Atrophy; D002648:Child; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D009900:Optic Nerve / Q000473:pathology*; D011625:Pterygium / Q000175:diagnosis*; D013131:Spine / Q000002:abnormalities; D013577:Syndrome