Serpentine fibula syndrome: expansion of the phenotype with three affected siblings

We describe three siblings, one of whom has serpentine fibula syndrome (SFS) and has many facial and skeletal features in common with two deceased brothers, making it highly likely that they too had the condition. The karyotype of one of the deceased males was 47,XXY. These are the first affected sibs with SFS, and the first affected males. They all have other abnormalities which have not previously been described as part of the condition, namely congenital heart disease, inguinal herniae (two sibs), intestinal malrotation (two sibs) and coloboma (one sib). Facially they resemble the cases described by ter Haar et al. (1983), who also had congenital heart disease and a skeletal dysplasia though did not have the characteristic bowing of the fibulae. There are also features in common with Hadju-Cheney syndrome.