Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

Epidemiology

It has been reported in 13 patients from a four-generation family.

Clinical description

Osteosclerosis was constant and most pronounced in the cranial base and calvarium. Craniosynostosis was reported in four patients and a mild developmental delay in three patients. Dysmorphic features were constant and included macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones and prominent jaw.

Etiology

A missense mutation A214T in the low-density lipoprotein receptor related protein 5 gene, LRP5, was found in all analyzed affected individuals. In this family, findings are consistent with autosomal dominant inheritance.