Restricted mandibular movement attributed to ossification of mandibular depressors and medial pterygoid muscles in patients with fibrodysplasia ossificans …
T Okuno, H Suzuki, A Inoue, J Kusukawa - Journal of Oral and Maxillofacial …, 2017 - Elsevier
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic condition
characterized by congenital malformation and progressive heterotopic ossification (HO)
caused by a recurrent single nucleotide substitution at position 617 in the ACVR1 gene. As
the condition progresses, HO leads to joint ankylosis, breathing difficulties, and mouth-
opening restriction, and it can shorten the patient's lifespan. This report describes 3 cases of
FOP confirmed by genetic testing in patients with restricted mouth opening. Each patient …
characterized by congenital malformation and progressive heterotopic ossification (HO)
caused by a recurrent single nucleotide substitution at position 617 in the ACVR1 gene. As
the condition progresses, HO leads to joint ankylosis, breathing difficulties, and mouth-
opening restriction, and it can shorten the patient's lifespan. This report describes 3 cases of
FOP confirmed by genetic testing in patients with restricted mouth opening. Each patient …
