Mandibular hypoplasia in fibrodysplasia ossificans progressiva causing obstructive sleep apnoea with pulmonary hypertension.

摘要

Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant genetic disorder of the connective tissue that causes heterotopic ossification (HO) and developmental skeletal defects (MIM 135100). The classic phenotype is characterized by congenital malformation of the big toes and childhood onset of progressive HO (Kaplan et a/., 2008).Among the craniofacial abnormalities associated with FOP, mandibular hypoplasia and maxillary overbite can develop during skeletal maturation. Jaw restriction is considered to be a common feature in the natural history of FOP (Connor and Evans, 1982).