title: Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?
abstract: The Carey-Finema-Ziter syndrome (CFZS, MIM 254940) is an apparently autosomal recessively inherited disorder consisting of the combination of non-progressive congenital myopathy with Moebius and Pierre Robin sequence, facial anomalies and growth delay. Mental development has been described as normal or delayed. Temporomandibular joint (TMJ) ankylosis is the immobility of the joint caused by ankylotic fusion of the mandible to the cranial base or zygoma. It is a serious and disabling condition that may cause problems in mastication, digestion, speech, appearance, and oral hygiene. Most often is a true ankylosis of the TMJ but other pathological mechanisms are described (i.e., the fusion of the coronoid process to temporal bone or with the zygoma, or a variety of soft tissues disorders like Fibrodysplasia Ossificans Progressiva). Here we report a 2-year-old girl fitting with a clinical diagnosis of CFZS associated with a limited mouth opening in which temporomandibular joint ankylosis was suspected. Because it has been postulated that many clinical features in CFZS may only be secondary effects of brainstem anomalies and muscle weakness during development, the limited opening of the mouth observed in our patient could represent a rare clinical feature of CFZS itself. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Pediatric, MBBM Foundation A.O.S. Gerardo, Monza, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Pasetti
authors.affiliation: Department of Cranio-Maxillo-Facial Surgery, A.O.S. Gerardo, Monza, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Mazzoleni
authors.affiliation: Department of Cranio-Maxillo-Facial Surgery, A.O.S. Gerardo, Monza, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Novelli
authors.affiliation: Molecular Genetics Laboratory, A.O. Papa Giovanni XXIII, Bergamo, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Iascone
authors.affiliation: Department of Cranio-Maxillo-Facial Surgery, University of Milano Bicocca, Monza, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Bozzetti
authors.affiliation: Department of Pediatric, Pediatric Genetic Unit, MBBM Foundation A.O.S. Gerardo, Monza, Italy.|Department of Pediatric, A.S.S.T. Lariana, Como, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
mesh_terms: D000844:Ankylosis / Q000175:diagnosis*; D019066:Facies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D020331:Mobius Syndrome / Q000175:diagnosis*; D009135:Muscular Diseases / Q000175:diagnosis*; D010641:Phenotype; D010808:Physical Examination; D010855:Pierre Robin Syndrome / Q000175:diagnosis*; D013705:Temporomandibular Joint Disorders / Q000175:diagnosis*; D036542:Tomography, Spiral Computed
keywords: Carey-Fineman-Ziter syndrome; temporomandibular joint ankylosis