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Dysmorphology
Craniofacial Disorders
| Question | Answer |
|---|---|
| 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
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