J Korean Soc Neonatol.  2005 May;12(1):87-92.

A Case of Pfeiffer Syndrome with Hydrocephalus and Multiple Congenital Anomalies

• Yun KW
• Rhee KW
• Lim IS
• Choi ES
• Ryu BH

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.

Keyword

Craniosynostosis; Pfeiffer syndrome; Midface hypoplasia; FGFR; Hydrocephalus

MeSH Terms

Acrocephalosyndactylia*
Ankylosis
Craniosynostoses
Humans
Hydrocephalus*
Infant, Newborn
Radius
Syndactyly
Thumb
Toes