A case of Pfeiffer syndrome.
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.
Park
Moon Sung
MS
Department of Pediatrics, Ajou University School of Medicine, Yongtong-gu, Suwon, Korea.
Yoo
Jae Eon
JE
Chung
Jaiho
J
Yoon
Soo Han
SH
D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007723:Korea; D011859:Radiography