Ameer Ahmad, Abdul Rehman.
Case report of a child of Pfeiffer syndrome with umblical hernia.
Pak Paed J Jan ;32(1):52-4.

Pfeiffer Syndrome (PS) is a very rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area, distinctive malformations of the fingers and toes (digits), and/or additional physical abnormalities. This disorder, which is also known as Acrocephalosyndactyly Type V, is generally accepted to be the same disorder as Noack Syndrome (Acrocephalopolysyndactyly Type I). Broad medially deviated distal phalanges of thumbs and big toes with soft tissue syndactyly are typical. A case of an infant with the typical features along with the uncommon association of umbilical hernia is reported. The literature is briefly reviewed for clinical features, classification, genetic basis and management.

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