Pfeiffer syndrome type 2: case report

Sao Paulo Medical Journal

Maria Kiyoko Oyamada²  Haideé Salgado Alonso Ferreira¹  Marcelo Hoff¹ 

[1] ,Universidade de São Paulo Faculdade de Medicina Hospital das ClínicasSão Paulo,Brazil

关键词: Pfeiffer syndrome;    Cloverleaf skull;    Craniosynostosis;    Syndactyly;    Upper airway;    Eye;    Síndrome de Pfeiffer;    Crânio;    Trevo;    Craniosinostose;    Sindactilia;    Vias aéreas superiores;    Olho;   

DOI  :  10.1590/S1516-31802003000400008

来源: SciELO

【 摘 要 】

OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.

【 授权许可】

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