A Case of Pfeiffer Syndrome with Hydrocephalus and Multiple Congenital Anomalies.

Yun,  Ki Wook; Rhee,  Kang Won; Lim,  In Seok; Choi,  Eung Sang; Ryu,  Byung Hoon

Case Report

Journal of the Korean Society of Neonatology 2005;12(1):87-92.
Published online May 1, 2005.

A Case of Pfeiffer Syndrome with Hydrocephalus and Multiple Congenital Anomalies.

Ki Wook Yun, Kang Won Rhee, In Seok Lim, Eung Sang Choi, Byung Hoon Ryu

Department of Pediatrics, College of Medicine, Chungang University, Seoul, Korea. inseok@cau.ac.kr

수두증과 다발성 선천성 기형을 동반한 Pfeiffer 증후군 1례

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Abstract

Pfeiffer syndrome is one of a rare form of craniosynostosis syndrome, showing variable degree of craniosynostosis, midface hypoplasia, broad thumbs and toes and syndactyly. This is transmitted in autosomal dominant pattern and known to be related to mutations in FGFR (Fibroblast Growth Factor Receptor) 1 or FGFR 2. We experience a case of newborn Pfeiffer syndrome type 3 who had multiple facial anomalies, thumbs and great toes anomalies, ankylosis of radius and ulnar and hydrocephalus.

Key Words: Craniosynostosis; Pfeiffer syndrome; Midface hypoplasia; FGFR; Hydrocephalus