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Craniofacial Disorders

Treacher-Collins pattern of craniofacial features: malformed auricle (hearing loss), down-slanting palpebral fissures; colobomas of the lower eyelids (partially absent eyelashes); facial bone hypoplasia (micrognathia)
IQ and TCS normal intelligence
Additional features of TCS choanal atresia; pharyngeal hypoplasia; CP can be U shaped (Pierre Robin sequence); Tissue tags or blind fistulae between tragus and mouth; microstomia; congenital heart defect; crytorchidism; coloboma
Quick facts on TCS 1/10,000-50,000 LBs, AD, TCOF1 mutation at 5q32-33.1 (150 different mutations)
TCOF1 codes for protein treacle
Genotype does not predict phenotype for TCS... variable expression is seen and reduced penetrance can occur
Dx for TCS Gene sequencing confirms 90-95% of cases; prenatal US may see polyhydramnis, microcephaly; slanting forehead; micropthalmos; micrognathia
Medical management for TCS patients Craniofacial team; CT scan; CP repair; maxilomandibular reconstruction; zygomatic/orbital reconstruction; external ear reconstruction; dental assessment; bilteral ear canal reconstruction
Differential DX with TCS Goldenhar, Miller, Nager, Pierre Robin, Nonsyndromic manidibular hypoplasia
Robin Sequence is caused by... hypoplasia of the mandible, placing the tongue posteriorly. This prevents closure and fusion of the palate and results in a wide, u-shaped cleft palate and obstructed upper airway
micrognathia leads to... posteriorly located tongue
posteriorly located tongue leads to... cleft palate and obstructed airway
The majority of PRS cases occur... with multiple-anomaly syndromes
PRS occurs in how many live births? ~1/2000
PRS is often secondarily dx to... Stickler syndrome, VCFS, Trisomies 13, 18; Cornelia de Lange; Escobar syndrome; TCS, Nager, Miller, etc.
Polyhydramnios occurs in what % of PRS pregnancies 60%
Mandibles growth is largely in what trimester? 3rd
Management and Treatment of PRS Craniofacial team including ENT and speech therapist; do not lay baby on his/her back!; tracheostromy may be necessary in severe cases; feeding tube; etc.
Stickler Syndrome Flat facies, myopia, spondyloepiphyseal dysplasia
Abnormalities in Stickler syndrome: Orofacial Flat facies; depressed nasal bridge; prominent eyes; epicanthal folds; short nose with anteverted nares; midfacial/mandibular hypoplasia; CP; hearing loss; dental porblems
Abnormalities in Stickler syndrome: Ocular nonprogressive myopia; spontaneous retinal detachment; congenital vitreous anomaly; presenile cataracts; lens dislocation; strabismus; glaucoma; blindness;
Abnormalities in Stickler syndrome: muscoloskeletal Hypotonia; joint hyperflexibility; large joints; subluxation of hip; long bones with narrow shafts; osteoarthritis (30s); arachnodactyly; scholiosis; marfanoid-habitus; pectus excavatum
AD Stickler syndrome genes COL2A1, COL11A1, COL11AZ
AR Stickler syndrome genes COLD9A1
Stickler syndrome is what type of disorder? Connective tissue
Created by: KChatham
Popular Genetics sets




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