RESUMO

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.

Assuntos

Acrocefalossindactilia , Acrocefalossindactilia/classificação , Acrocefalossindactilia/diagnóstico por imagem , Acrocefalossindactilia/genética , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Radiografia , Venezuela