title: [Microtia: isolated defect of hearing organ, or syndrome forming collection of abnormalities].
abstract: Congenital malformations of the external ear are relatively rare, however gradual increase in their frequency has been observed in the last years. These defects can occur as isolated congenital malformations, but they can coexist with congenital malformations of facial skeleton and also with congenital defects of distant organs. The purpose of this study was to determine coexisting facial skeleton defects and congenital defects of distant organs in a group of patients with unilateral or bilateral congenital malformations of the external ear. 37 patients age 1 to 30 [mean age 12.4 years] with anotia, microtia or aplasia of external ear canal were part of this study. In 17 examined patients [46.0% of all examined persons] microtia could be treated as an isolated malformation, however hypoplasia of other elements formed from branchial arches, including mandibula, cheek or oral cavity, was found in 15 examined patients [40.5%]. In 11 [29.7%] patients congenital malformations of the external ear were found together with the congenital defects of distant organs (kidney, heart, muscular and skeletal system), and in two patients [5.4%] the defects involved even two different distant organs. Defects of the distant organs were found more frequently in patients with bilateral malformations of the external ear than in patients with unilateral ear malformation. In authors opinion each patient, even with seemingly isolated microtia, should be closely examined in order to exclude probable congenital defects of the distant organs.
authors.affiliation: Katedra i Zakład Genetyki Klinicznej Collegium Medicum im. L. Rydygiera w Bydgoszczy Uniwersytet Mikołaja Kopernika w Toruniu.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Garstecka
authors.forename: Stanisław
authors.initials: S
authors.lastname: Betlejewski
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Skonieczka
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome