Journal of Medical Genetics, 37(e37), 1–2 (2000), DOI:10.1136/jmg.37.11.e37
Fibrous dysplasia is a benign fibro-osseous condition that may involve one or more bones in the cranial and extracranial skeleton. There are four main types of fibrous dysplasia: monostotic in which only one bone is affected; polyostotic in which multiple bones are affected; McCune-Albright syndrome (MIM 174800), a polyostotic form accompanied by pigmentation lesions and endocrine dysfunction presenting as precocious puberty in females; and a craniofacial form (CFD) in which only bones of the craniofacial complex are affected.5 The majority of patients with CFD present in their second decade; the lesions are generally unilateral and tend to become static once skeletal maturity is reached.
Fibrous dysplasia usually occurs with no family history, although CFD has been shown to be inherited in an autosomal dominant fashion. Activating mutations within the guanine nucleotide binding protein gene (…