Oto-mandibulo-facial dysostosis: a case report. 2000

K R Indushekar, and N Muhamad
Department of Pediatric Dentistry, S. D. M. College of Dental Sciences, Dharwad.

The case presented here is a 6 year old male child with oto-mandibulo-facial dysostosis syndrome. Oto-mandibulo-facial dysostosis is a term used for a unilateral congenital birth defect in which abnormalities can range from minor unilateral ear anomalies or preauricular tags to severe ones involving anotia and mandibular hypoplasia.

UI MeSH Term Description Entries
D008297 Male Males
D008334 Mandible The largest and strongest bone of the FACE constituting the lower jaw. It supports the lower teeth. Mylohyoid Groove,Mylohyoid Ridge,Groove, Mylohyoid,Grooves, Mylohyoid,Mandibles,Mylohyoid Grooves,Mylohyoid Ridges,Ridge, Mylohyoid,Ridges, Mylohyoid
D008335 Mandibular Condyle The posterior process on the ramus of the mandible composed of two parts: a superior part, the articular portion, and an inferior part, the condylar neck. Condyle, Mandibular,Condyles, Mandibular,Mandibular Condyles
D008342 Mandibulofacial Dysostosis A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) MFD1 Mandibulofacial Dysostosis,Treacher Collins Syndrome,Franceschetti-Zwahlen-Klein Syndrome,Mandibulofacial Dysostosis (MFD1),Treacher Collins-Franceschetti Syndrome,Dysostoses, MFD1 Mandibulofacial,Dysostoses, Mandibulofacial,Dysostoses, Mandibulofacial (MFD1),Dysostosis, MFD1 Mandibulofacial,Dysostosis, Mandibulofacial,Dysostosis, Mandibulofacial (MFD1),Franceschetti Zwahlen Klein Syndrome,Franceschetti-Zwahlen-Klein Syndromes,MFD1 Mandibulofacial Dysostoses,Mandibulofacial Dysostoses,Mandibulofacial Dysostoses (MFD1),Mandibulofacial Dysostoses, MFD1,Mandibulofacial Dysostosis, MFD1,Syndrome, Franceschetti-Zwahlen-Klein,Syndrome, Treacher Collins,Syndrome, Treacher Collins-Franceschetti,Syndromes, Franceschetti-Zwahlen-Klein,Syndromes, Treacher Collins-Franceschetti,Treacher Collins Franceschetti Syndrome,Treacher Collins-Franceschetti Syndromes
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004431 Ear, External The outer part of the hearing system of the body. It includes the shell-like EAR AURICLE which collects sound, and the EXTERNAL EAR CANAL, the TYMPANIC MEMBRANE, and the EXTERNAL EAR CARTILAGES. External Ear,Outer Ear,Ear, Outer,Ears, External,Ears, Outer,External Ears,Outer Ears
D005146 Facial Asymmetry Congenital or acquired asymmetry of the face. Asymmetries, Facial,Asymmetry, Facial,Facial Asymmetries
D005500 Follow-Up Studies Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease. Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D006053 Goldenhar Syndrome Mandibulofacial dysostosis with congenital eyelid dermoids. Hemifacial Microsomia,Oculoauriculovertebral Syndrome,Craniofacial Microsomia,Facioauriculovertebral Dysplasia,Facioauriculovertebral Sequence,First and Second Branchial Arch Syndrome,First and Second Pharyngeal Arch Syndromes,Goldenhar Disease,Goldenhar Syndrome with Ipsilateral Radial Defect,Goldenhar-Gorlin Syndrome,Hemifacial Microsomia with Radial Defects,Lateral Facial Dysplasia,Microsomia Hemifacial Radial Defects,Moeschler Clarren Syndrome,OAVS with Radial Defect,Oculoauriculovertebral Dysplasia,Oculoauriculovertebral Spectrum,Oculoauriculovertebral Spectrum with Radial Defect,Oral-Mandibular-Auricular Syndrome,Otomandibular Dysostosis,Craniofacial Microsomias,Dysostosis, Otomandibular,Dysplasia, Facioauriculovertebral,Dysplasia, Lateral Facial,Dysplasia, Oculoauriculovertebral,Dysplasias, Facioauriculovertebral,Dysplasias, Lateral Facial,Dysplasias, Oculoauriculovertebral,Facial Dysplasia, Lateral,Facial Dysplasias, Lateral,Facioauriculovertebral Dysplasias,Facioauriculovertebral Sequences,Goldenhar Gorlin Syndrome,Goldenhar-Gorlin Syndromes,Lateral Facial Dysplasias,Microsomia, Craniofacial,Microsomias, Craniofacial,Oculoauriculovertebral Dysplasias,Oculoauriculovertebral Spectrums,Oral Mandibular Auricular Syndrome,Oral-Mandibular-Auricular Syndromes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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