Diagnostic dilemma in overlapping congenital syndromes.

Chromosomal or segmental aneusomy are an important cause of congenital malformations, emphasizing the need for cytogenetic evaluation. Many congenital malformations, especially those with multi-systemic anomalies present overlapping phenotypic features that could partly be attributed to multiple gene deregulations. Moreover, the expressivity of phenotypic features of a particular syndrome could vary extensively among the patients and hence, request for a specific test becomes difficult as observed in the present case.