Variable expression in pfeiffer syndrome

Abstract

A female infant with Pfeiffer syndrome (acrocephalosyndactyly V) is presented. Her mother has no limb malformations, but has craniofacial features which strongly suggest that she is also affected, although more mildly. This family indicates that wide intrafamilial variation or Pfeiffer syndrome is possible and suggests that without detailed investigation mildly affected subjects can remain undiagnosed, which may lead to erroneous genetic counselling.