Most cases of sacral dysgenesis are considered to be sporadic events. We present two families in whom the presence of associated clinical features prompted specific investigation of chromosome 7, leading to the identification of an underlying chromosome 7q deletion causing sacral dysgenesis. All affected individuals had microcephaly and developmental delay. Detailed cytogenetic studies confirmed that all three affected individuals had a deletion of chromosome 7q associated with their sacral dysgenesis, developmental delay and related problems. The three affected patients were studied clinically, radiologically and cytogenetically. Eleven unaffected individuals from the two families were also investigated by genetic studies, specifically evaluating chromosome 7.
Conclusion: It is important that detailed family history, evaluation of associated malformations and the overall clinical picture be considered in identifying the underlying diagnosis in cases of anal stenosis/sacral agenesis. The cases we present demonstrate the value of detailed chromosome studies in such situations.