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[Pfeiffer syndrome associated with clover-leaf skull: 1st case described in Venezuela].

作者信息

Martínez-Basalo C, Alvarez-Nava F, González-Inciarte M E, González-Inciarte L, Delgado-Luengo W, Mora-La Cruz E, Peña J, Rodríguez B, Gómez-Polo G, Delgado-Luengo J

机构信息

Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Venezuela.

出版信息

Invest Clin. 1997 Jun;38(2):95-106.

PMID:9296644
Abstract

In 1964, Pfeiffer described a syndrome consisting of craniosynostosis, broad thumbs, broad great toes, and partial soft tissue syndactyly of the hands and feet. It belongs to acrocephalosyndactyly syndromes. We describe a male baby product of an eighth full-term uncomplicated uncontrolled pregnancy, mother and father normal and unrelated, 32 and 50 years old, respectively. He had all diagnostic and prognostic criteria of Subtype 2 Pfeiffer's Syndrome. The clinical, radiological, tomographic, and genetic aspects are discussed.

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