A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies.
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.
Demir
Yavuz
Y
Department of Plastic and Reconstructive Surgery, Afyon Kocatepe University, School of Medicine, Afyon, Turkey. ydemir@aku.edu.tr
Samli
Hale
H
Yucel
Aylin
A
Yilmaz
M Deniz
MD
Haktanir
Nurten Turhan
NT
Maralcan
Gokhan
G
Solak
Mustafa
M
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