Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia. A rare autosomal dominant congenital syndrome.
A rare congenital autosomal dominant syndrome of thickened bilateral lop auricles, conductive hearing loss, ossicular anomalies, and micrognathia is reported. The anomaly is presumably a defect in the first and second branchial arch development during the sixth and seventh weeks of gestation with an auricle abnormality (first and second arch), abnormal incus and malleus (first and second arch), abnormal stapes (second arch), and micrognathia (first arch). Recognition of low-set or malformed auricles with a unilateral or bilateral conductive hearing loss should alert the otolaryngologist to possible middle ear abnormalities and other associated branchial cleft anomalies. Surgical correction of the congenital conductive hearing loss may include prosthetic ossicular reconstruction and otoplasty. The possibility of associated congenital anomalies of other systems (for example, vestibular, cardiac, genitourinary, reproductive, and so on) should be evaluated. An accurate pedigree and family medical and genetic history should be obtained to screen for other involved family members and for assessment of genetic passage of the trait.
D000328:Adult; D004431:Ear, External / Q000002:abnormalities*; D004432:Ear, Middle / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D034381:Hearing Loss / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008844:Micrognathism / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome