Oyamada Maria Kiyoko, Ferreira Haide Salgado Alonso, Hoff Marcelo
Hospital de Servidor Público Municipal de São Paulo, Brazil.
Sao Paulo Med J. 2003 Jul 1;121(4):176-9. doi: 10.1590/s1516-31802003000400008. Epub 2003 Oct 29.
To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis.
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.
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.
报告1例菲佛综合征病例，并讨论其诊断特征、疾病类型特点及鉴别诊断。
作者描述了1例患有三叶形颅骨、双侧极度眼球突出和后鼻孔闭锁、第二和第三趾部分并指以及内侧宽大且向内侧偏斜的拇趾的新生儿。报告的病例为2型菲佛综合征，其预后通常较差。
菲佛综合征是一种临床症状多变的疾病，由常染色体显性遗传的骨软骨发育不良伴颅缝早闭组成。它已被分为三种类型。1型通常与智力正常及总体良好的预后相关。2型和3型通常有严重的神经功能损害、预后差、早期死亡且为散发性。根据最近的文献，在一些病例中，通过早期积极的药物和手术治疗可实现延长有效生存时间的预后。
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