title: A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies.
abstract: We report on a 17-year-old man who presented with unreported combination of right sided microtia and preauricular skin tag with conductive hearing loss, unilateral renal agenesis, partial syndactyly of forth and fifth metacarpals, multiple tarsal coalitions, absent toe, and hypoplastic tibia and fibula. Radiological and clinical findings did not match with the previously described syndromes with the type of anomalies seen in the case. We propose that this represents a new syndrome.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Afyon Kocatepe University, School of Medicine, Afyon, Turkey. ydemir@aku.edu.tr
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Demir
authors.forename: Hale
authors.initials: H
authors.lastname: Samli
authors.forename: Aylin
authors.initials: A
authors.lastname: Yucel
authors.forename: M Deniz
authors.initials: MD
authors.lastname: Yilmaz
authors.forename: Nurten Turhan
authors.initials: NT
authors.lastname: Haktanir
authors.forename: Gokhan
authors.initials: G
authors.lastname: Maralcan
authors.forename: Mustafa
authors.initials: M
authors.lastname: Solak
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D004431:Ear, External / Q000002:abnormalities*; D005360:Fibula / Q000002:abnormalities / Q000528:radiation effects; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D046089:Hearing Loss, Mixed Conductive-Sensorineural / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D011859:Radiography; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities / Q000528:radiation effects