Multiple pterygium syndrome: report of one case.
Multiple pterygium syndrome is a rare autosomal recessive disease which is characterized by multiple pterygium across the major joint and other associated anomalies. In this article, we report a male premature infant who was born with bizarre appearance: mask face with low set ear and micrognathia; pterygium of neck, antecubital, popliteal and intercrural area with four extremities flexion contracture. He was thought to be the first case report in Taiwan. Besides, we review medical literature about this disease.
Department of Pediatrics, China Medical Collage Hospital, Taichung, Taiwan.
D C
DC
Liu
F J
FJ
Tsai
H W
HW
Chen
C T
CT
Peng
C H
CH
Tsai
D000015:Abnormalities, Multiple; D003286:Contracture; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007596:Joints / Q000002:abnormalities*; D008297:Male; D009333:Neck / Q000002:abnormalities*