Craniofacial Disorders
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| show | malformed auricle (hearing loss), down-slanting palpebral fissures; colobomas of the lower eyelids (partially absent eyelashes); facial bone hypoplasia (micrognathia)
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| show | normal intelligence
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| show | 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
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| show | 1/10,000-50,000 LBs, AD, TCOF1 mutation at 5q32-33.1 (150 different mutations)
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| show | treacle
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| show | variable expression is seen and reduced penetrance can occur
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| Dx for TCS | show 🗑
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| Medical management for TCS patients | show 🗑
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| Differential DX with TCS | show 🗑
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| Robin Sequence is caused by... | show 🗑
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| show | posteriorly located tongue
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| show | cleft palate and obstructed airway
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| show | with multiple-anomaly syndromes
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| PRS occurs in how many live births? | show 🗑
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| show | Stickler syndrome, VCFS, Trisomies 13, 18; Cornelia de Lange; Escobar syndrome; TCS, Nager, Miller, etc.
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| show | 60%
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| show | 3rd
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| show | 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.
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| Stickler Syndrome | show 🗑
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| Abnormalities in Stickler syndrome: Orofacial | show 🗑
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| show | nonprogressive myopia; spontaneous retinal detachment; congenital vitreous anomaly; presenile cataracts; lens dislocation; strabismus; glaucoma; blindness;
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| show | Hypotonia; joint hyperflexibility; large joints; subluxation of hip; long bones with narrow shafts; osteoarthritis (30s); arachnodactyly; scholiosis; marfanoid-habitus; pectus excavatum
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| show | COL2A1, COL11A1, COL11AZ
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| show | COLD9A1
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| Stickler syndrome is what type of disorder? | show 🗑
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Created by:
KChatham
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