Деякі генетичні причини втрати слуху
Syndrome | Inheritance Pattern | Clinical Findings |
|---|---|---|
Branchio-oto-renal syndrome (Melnick-Fraser syndrome) | Most have hearing loss and ear abnormalities Associated with renal abnormalities and branchial cleft cysts or fistulas | |
Jervell and Lange-Nielsen syndrome | Profound congenital hearing loss Abnormal cardiac rhythms (eg, prolonged QTc interval) Increased risk of syncope and sudden death | |
Pendred syndrome | Progressive hearing loss Associated with simple nontoxic goiter (euthyroid goiter), congenital goiter, and vestibular symptoms | |
Stickler syndrome | Hearing loss varies in degree and may become more severe over time Associated with bony and skeletal abnormalities Many have severe nearsightedness | |
Usher syndrome | Accounts for 3 to 6% of all children who are deaf and another 3 to 6% of children who are hard of hearing Associated with retinitis pigmentosa Three clinical types | |
Waardenburg syndrome | When hearing loss occurs, it is congenital Associated with pigmentary changes in hair, eyes, and skin Four recognized types, each with different physical characteristics | |
AD = autosomal dominant; AR = autosomal recessive. | ||