In this autosomal dominant syndrome patients have a large head and short extremities along with mixed hearing loss because of fused ossicles
What is Achondroplasia
100
A child with Jervell and Lange-Nielsen syndrome comes to you office for a sleep disordered breathing consult. On exam, the pateint is noted to have 4+tonsils and adenoid facies. What test is required prior to going to the operating room
What is EKG
100
What genetic mutation is thought to be respnsible for 50-80% of all autosomal recessive hearing loss
What is DFNB1 for connexin 26
200
Which SCC is last to develop
What is lateral semicircular canal
200
Complete failure of development of the inner ear (both bony and membranous aplasia)
What is Michel anomaly
200
Patients with this syndrome have blue sclera, fragile bones, and hearing loss due to stapes fixation
What is Osteogenesis Imperfecta
200
Also known as Gargoylism, this autosomal recessive syndrome has Adler bodies, forehead prominence, low set ears, progressive corneal opacities, mixed hearing loss, and dwarfism
What is Hurler syndrome
200
What percentage of hereditray hearing loss is syndromic
What is 30%
300
Waardenburg's syndrome type IV is associated with what GI disease
What is Hisrchsprung megacolon
300
Scheibe anomaly is associated with partial or complete aplasia of what portion of the inner ear
What is cochlea and saccule
300
Patients with this autosomal dominant syndrome have FLAT CONDUCTIVE HEARING LOSS( secondary to stapes fixation), saddle nose, high arched palate, syndactylia, frontal prominence, and craniofacial dysostosis
What is Apert Disease
300
This autosomal recessive syndrome is associated with absent or deformed thumb, hyperpigmentation, Conductive hearing loss, and heart/kidney malformations
What is Fanconi Anemia
300
Norrie syndrome, an X- linked cause of congenital hearing loss, is characterized by progressive SNHL, mental retardation, and _______.
What is congenital blindness
400
Most common congenital cause of SNHL seen on X-ray
What is Enlarged vestibular aqueduct
400
This inner ear anomaly is associated with complete absence of membranous labyrinth
What is Bing-Siebenmann
400
This syndrome is associated with auricular deformity, malformation of malleus/inus, preauricular fistulas, and "fishmouth"
What is Treacher-Collins syndrome
400
Considered the most common cause of combined blindness and deafness in the Western world, this syndrome typically affects what portion of the inner ear.
What is organ of Corti
400
At this age, patients vocabulary includes 5-20 words
What is 18 months
500
Name the syndrome accounts for the most common form of hereditray congential deafness
What is Waardenburg's syndrome
500
Name with two syndromes associated with Schiebe anomaly
What is Usher's and Waardenburg's syndrome
500
Also known as Marble bone disease, the autosomal recessive syndrome is associated with conductive or mixed hearing loss, fluctuating facial nerve paralysis, optic atrophy, atresia aof paranasal sinuses, and choanal atresia
What is Osteopetrosis
500
What gene is associated with Waardenburg syndrome Type I and III
What is PAX3
500
The audiogram for patient with this disease has a classic "cookie bite" or U shaped pattern