1: Hearing Loss in Children Flashcards
What is microtia
Failure of external auditory canal to develop
What is the inheritance pattern of treacher-collins
Autosomal Dominant
How does treacher-collins present
- External auditory atresia
- Mid-facial hypoplasia
- Downward slanting palpabrae
- Conductive HL
- Coloboma of lower eyelid
what type of hearing loss is present in treacher-collins
Conductive HL
what is the inheritance pattern of brachial-otorenal syndrome
Autosomal dominant
what gene is affected in brachial-otorenal syndrome
EYA1
how does brachial-ototrenal syndrome present clinically
- Per-auricular pits
- Brachial sinus fistula
- Renal hypoplasia
- Widened aqueduct
what is the inheritance of pendred syndrome
Autosomal recessive
how does pendred syndrome present clinically
Bilateral SNHL and Goitre
what is the commonest cause of sensorineural hearing loss in children
Cytomegalovirus
what are 4 features of congenital cytomegalovirus infection
- SNHL
- Pin-point petechial rash (Blueberry)
- Microcephaly
- Hepatosplenomegaly
how is congenital CMV infection managed
IV Valgancyclovir
what is the most-common non-syndromic cause of congenital deafness
Connexin-26 Deafness
how does connexin-26 deafness present
SNHL
what is the most common complication of meningitis
SNHL