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Three clinical components of Pierre Robin Syndrome
- Micrognathia
- Glossoptosis
- Cleft Palate (+/-)
- Airway management: prone positioning-> nasopharyngeal tube-> surgery (mandibular adv, trach)
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Can children with clefts breast feed?
- Cleft lip: yes
- cleft palate: no. Bottle feed with Haberman feeder/teat
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What is Stickler Syndrome?
- Progressive, autosomal dominant connective tissue disorder
- Oral-facial abnormalities (eg button nose, cleft), ocular abn (eg retinal detachment), auditory abd (high freq SNHL), skeletal abd (degenerative joint dz, pain), family hx or collagen mutation
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What syndrome is associated with lip pits?
- Van Der Woude syndrome
- Lip pits and cleft lip/palate (or one finding with a 1st degree relative with the other)
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Characteristics of Velocardiofacial Syndrome (DiGeorge, Catch-22)
- Cardiac (conotruncal heart defects)
- Abnormal facies (Malar flattening with elongated facial height)
- Thymus deficiency
- Cleft palate
- Hypocalcemia (hypoparathyroid)
- Chromosome 22 microdeletion
- LARYNGEAL WEBS (FISH test pts with webs)
- VELOPHARYNGEAL INSUFFICIENCY (FISH test pts with VPI)
- Medialized carotid artery (if considering VPI surgery)
- Overfolding helix, cup ear
- Ophthalmologic disorders
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Treacher Collins is a defect of which branchial arches?
- 1st and 2nd
- Mutations traced to chromosome 5.
- Autosomal dominant (40% with affected parent)
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Clinical characteristics of Treacher Collins?
- Midface hypoplasia (89%)
- Down sloping palpebral fissures
- micrognathia/retrognathia (78%)
- Lower eyelid abnormalities (coloboma, absent lashes) [Goldenhar UPPER eyelid affected]
- Microtia (36%)
- Cleft (28%)
- Vision defects, CHL due to ossicular abn, choanal atresia
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What are the characteristics of Goldenhar syndrome?
- Also called oculoauriculovertebral spectrum, or hemifacial microsomia
- 1st and 2nd branchial arches affected
- Ocular, ear abnormalities
- epibulbar dermoids
- upper eyelid colobomas (TC has LOWER eyelid colobomas)
- vertebral malformations
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Diagnostic criteria for CHARGE syndrome
- Major:
- - coloboma (not of the eyelid), micropthalmos, anopothalmos
- - Pinna abnormality (short, wide, asymmetric ear without lobe)
- - Choanal atresia
- - Cranial nerve abn (CNII decreased smell in >90%; IX/X swallowing difficulties; VII facial paralysis)
- - ossicular, cochlear malformation, small SCC
- Minor:
- - square face, prominent forehead
- - cleft
- - hockey stick palmar crease
- - heart, kidney genital abn
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What is the most common syndromic form of hereditary sensorineural hearing loss?
- Pendred syndrome
- inherited in an autosomal recessive fashion
- affected individuals also have goiter
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What is Branchio-oto-renal Syndrome?
- A wide variety of otologic findings, can involve the external, middle, or inner ear.
- Hearing impairment (CHL, SNHL, or mixed) is the most common feature of BOR syndrome and is reported in almost 90% of affected individuals.
- Branchial anomalies occur in the form of laterocervical fistulas, sinuses, and cysts
- renal anomalies ranging from agenesis to dysplasia (25%
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Diagnostic criteria for neurofibromatosis, type 2?
(1) bilateral vestibular schwannomas that usually develop by the second decade of or (2) a family history of NF2 in a first-degree relative, plus one of the following: unilateral vestibular schwannomas at less than 30 years of age, or any two of meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
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Diagnostic criteria for Stickler syndrome?
- (1) congenital vitreous anomaly
- and (2) any three of myopia with onset before age 6 years, rhegmatogenous retinal detachment or paravascular pigmented lattice degeneration, joint hypermobility with abnormal Beighton score, SNHL (audiometric confirmation), or midline clefting.
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Which type of Stickler has worst HL? Best vision?
- SS type 3 tend to have moderate to severe hearing lss, patients with SS type 1 have either normal hearing or only a mild impairment, and patients with SS type 2 fall in between
- SS type 2 is due to missense or in-frame deletion mutations in COL11A2, and is unique in that there are no ocular abnormalities because COL11A2 is not expressed in the vitreous
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Describe the 4 types of Waardenburg syndrome?
- WS type 1 is recognized by SNHL, white forelock, pigmentary disturbances of the iris, and dystopia canthorum, a specific displacement of the inner canthi and lacrimal puncti.
- WS type 2 is like WS type 1 with absence of dystopia canthorum
- WS type 3 is like WS type 1 with the addition of hypoplasia or contracture of the upper limb
- WS type 4 involves Hirschsprung disease
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Describe Treacher-Collins syndrome
- autosomal dominant
- characterized by maldevelopment of the maxilla and mandible, with abnormal canthi placement, ocular colobomas, choanal atresia, and conductive hearing loss secondary to ossicular fixation.
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Describe Pendred's syndrome
- hearing loss is usually congenital and severe to profound, although progressive mild to moderate SNHL is sometimes seen
- recessive
- B/L dilation of the vestibular aqueduct is common
- Euthyroid goiter, Thyroid dysfunction can be shown with a perchlorate discharge test
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Describe Jervell and Lange-Nielsen syndrome
- Recessive
- Prolonged QT
- Hearing impairment is due to changes in endolymph homeostasis caused by malfunction of this channel and is congenital, bilateral, and severe to profound
- Effective treatment with β-adrenergic blockers reduces mortality from 71% to 6%
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Describe 3 types of Usher Syndrome
- Type 1 (profound), severe to profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa that develops in childhood
- type 2 (severe), moderate to severe congenital hearing loss, with uncertainty related to progression, no vestibular dysfunction, and retinal degeneration that begins in the third to fourth decade
- type 3 (variable), progressive hearing loss, variable vestibular dysfunction, and variable onset of retinitis pigmentosa
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Describe the heritability of Alport's syndrome
- predominantly X-linked (approximately 80%), can be autosomal recessive or dominant
- disease of type IV collagen that is manifested by hematuric nephritis, hearing impairment, and ocular change
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___% of congenital hearing loss is hereditary
___% of hereditary hearing loss is syndromic
___% of nonsyndromic HL is recessive
- 60% hereditary
- 30% syndromic
- 80% recessive
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-Complete aplasia of labyrinthine capsule
-Cochleosaccular dysgenesis, limited to the membranous portion of the pars inferior
-Arrested development of the labyrinthine capsule results in incomplete partition and a dilated vestibular aqueduct
- Michels aplasia
- Scheibes aplasia
- Mondini malformation
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Name some autosomal dominant forms of syndromic hearing losss
- brachio-oto-renal syndrome
- neurofibromatosis
- osteogenesis imperfecta
- otosclerosis
- stickler syndrome
- treacher Collins syndrome
- waardenburg syndrome
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Autosomal recessive causes of syndromic hearing loss
- jervell and Lange-Nielsen syndrome
- pendred syndrome
- usher syndrome
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Mitochondrial disorders causing hearing loss
- Kearns-Sayre
- myoclonic epilepsy with ragged red fibers (MERRF)
- Leber hereditary optic neuropathy
- Susceptibility to aminoglycosides
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Syndrome comprisingĀ fused cervical vertebrae, SNHL or mixed hearing loss related to bony malformation of the inner ear.
Klippel-Feil
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Syndrome associated with mutation in FGFR2 can produce stapes fixation, patent cochlear aqueduct, large subarcuate fossa.
Apert syndrome
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Two interoperative considerations when performing a cochlear implant on patients with a cochlear malformation.
- facial nerve anomalies
- CSF leaks through the cochleostomy
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