Pfeiffer's syndrome associated to cloverleaf skull: First case described in Venezuela

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 no controlled pregnancy, mother and father normals 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.

Año de publicación:

1997

Keywords:

• Pfeiffer's syndrome
• great toes
• broad thumbs
• cloverleaf skull

Fuente:

scopus

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