Branchiotirenal syndrome
Conditions
Interventions
Observation group:None
Sponsors
West China Hospital of Sichuan University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients with hereditary nonsyndromic deafness and/or deafness syndrome in all previous patients who have been treated in West China Hospital of Sichuan University. Diagnostic criteria for hereditary nonsyndromic hearing loss: patients with speech frequencies (0.5 kHz, 1 kHz, and 2 kHz) in one or both ears with an average hearing threshold greater than 20 dB HL, no significant involvement of other systems, and exclusion of secondary hearing loss due to other causes. Diagnostic criteria for deafness syndrome: Gill ear kidney syndrome: people who meet 3 or more major manifestations, or 2 major manifestations and 2 secondary manifestations, or 1 major manifestation, and have at least one first-degree relative who is a patient with branchial ear renal syndrome. Among them, the main manifestations include deafness, anterior auricular fistula, branchial fissure fistula or cyst and renal malformation, and secondary manifestations include external ear abnormalities (such as external auditory canal stenosis and atresia), middle ear malformations (such as ossicular chain malformation, tympanic dysplasia, etc.), inner ear hypoplasia (such as cochlear Modini malformation, large vestibular aqueduct, etc.), and facial or taste abnormalities. Waardenberg syndrome: people who meet 2 major manifestations, or 1 major manifestation, and 2 minor manifestations. Primary manifestations include hereditary sensorineural hearing loss, first-degree related involvement, white bangs, hair hypopigmentation, iris pigmentation abnormalities such as complete heterochromia (different colors of the iris) and partial/segmental heterochromia (two different colors in the same iris, usually brown and blue), dysplastic blue or bright blue iris and W index >1.95), and secondary manifestations include medial valgus of the brow (medial canthal displacement), congenital leukoderma, broad/high nasal roots, nasal alar hypoplasia, and premature gray hair.
Exclusion criteria
Exclusion criteria: 1. Those with incomplete basic information; 2. Those who have not signed the informed consent form at the time of previous visits; 3. Patients with sudden deafness; 4. Deafness patients caused by chronic otitis media; 5. Deafness patients caused by cholesteatoma of the middle ear/external auditory canal; 6. Patients with secondary deafness caused by other reasons.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Hearing ability; | — |
Countries
China
Contacts
Public ContactZhao Yu
West China Hospital, Sichuan University
Outcome results
None listed