Familial Scaphocephaly Syndrome, Mcgillivray Type

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

Epidemiology

It has been reported in 11 patients from a three-generation family.

Clinical description

The patients had variable dysmorphic features including high forehead, marked midface hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and malocclusion. More severely affected patients were male and had intellectual disability.

Etiology

Molecular analysis revealed a K526E mutation of the fibroblast growth factor receptor 2 gene, FGFR2.

Genetic counseling

In this family, findings are consistent with autosomal dominant inheritance.