Diagnosis of pfeiffer syndrome with umbilical hernia

ABSTRACT

Pfeiffer syndrome [PS] is a form of acrocephalosyndactyly, a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. Type I Pfeiffer syndrome is compatible with life. It is characterized by normal intelligence and a classic phenotype of craniosynostosis, broad thumbs, and syndactyly. Types II and III are sporadic in occurrence, with more severe involvement of the central nervous system [CNS] than in type I. Type II is associated with the classic cloverleaf-shaped skull. Neurologic compromise is common in both types II and III