title: New syndrome? Prominent, constricted ears with malformed condyle of the mandible.
abstract: We report on several relatives in 5 generations of one family with prominence of the ears, with a marked constriction at the junction between the lower and middle thirds of the pinna. Computerized tomography and radiographs in the propositus and his affected father showed abnormalities of the condyle of the mandible. The propositus had more severe changes in the condyle with microstomia and reduced range of motion of the mandible in the temporomandibular joint. There was no hearing loss or abnormalities of the bones of the middle ear.
authors.affiliation: Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston 02114-2696, USA.
authors.forename: M
authors.initials: M
authors.lastname: Jampol
authors.forename: G
authors.initials: G
authors.lastname: Repetto
authors.forename: D A
authors.initials: DA
authors.lastname: Keith
authors.forename: H
authors.initials: H
authors.lastname: Curtin
authors.forename: J
authors.initials: J
authors.lastname: Remensynder
authors.forename: L B
authors.initials: LB
authors.lastname: Holmes
mesh_terms: D002648:Child; D004431:Ear, External / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D008335:Mandibular Condyle / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008865:Microstomia / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D011859:Radiography; D013577:Syndrome; D013704:Temporomandibular Joint / Q000002:abnormalities; D014055:Tomography, Emission-Computed