Familial Clubfoot Due To 17q23.1q23.2 Microduplication

17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.

Epidemiology

It has been described in three families.

Clinical description

All cases with clubfoot were male and clubfoot was bilateral in all except one case. Clinically, the feet were short, with broad and overlapping toes. Mild nail hypoplasia was present in two affected individuals and mild short stature was common.

Genetic counseling

The microduplication segregated with autosomal-dominant clubfoot in all three families but with incomplete penetrance. This microduplication was identified by array CGH (comparative genomic hybridization).