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J Korean Soc Neonatol. 2005 May;12(1):87-92. Korean. Case Report.
Yun KW , Rhee KW , Lim IS , Choi ES , Ryu BH .
Department of Pediatrics, College of Medicine, Chungang University, Seoul, Korea.

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.

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