Fibrodysplasia Ossificans Progressiva: A Case Report with Pseudo-Ankylosis of the Temporomandibular Joint-Reference-Cited by-同舟云学术

Fibrodysplasia Ossificans Progressiva: A Case Report with Pseudo-Ankylosis of the Temporomandibular Joint

Published:2022-12-19 Issue: Volume: Page:105566562211465
ISSN:1055-6656
Container-title:The Cleft Palate Craniofacial Journal
language:en
Short-container-title:The Cleft Palate Craniofacial Journal

Author:

Chaisrisawadisuk Sarut¹²^ORCID,Oliver Kelly J.³,Constantine Sarah⁴,Azzopardi Jonathan¹,Anderson Peter J.¹,Moore Mark H.¹

Affiliation:

1. Cleft and Craniofacial South Australia, Women's and Children's Hospital, North Adelaide, South Australia, Australia

2. Division of Plastic Surgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

3. Paediatric Dental Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia

4. Department of Medical Imaging, Women's and Children's Hospital, North Adelaide, South Australia, Australia

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterized by progressive heterotopic ossifications and congenital hallux valgus deformities. The common underlying genetic cause is an ACVR1 mutation, resulting in altered bone morphogenetic protein (BMP) regulation. Trauma and/or minor procedures aggravate the abnormal bony formation in soft tissues. This report presents a 3-year-old child with this condition who presented pseudo-ankylosis of the temporomandibular joint (TMJ) after minor craniofacial trauma. Abnormal ossification in the medial pterygoid muscle was identified as the causative abnormality for the presentation with trismus.

Publisher

SAGE Publications

Subject

Otorhinolaryngology,Oral Surgery

Link

http://journals.sagepub.com/doi/pdf/10.1177/10556656221146598

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2. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

3. The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

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