Craniofacial Disorders
Help!
|
|
||||
|---|---|---|---|---|---|
| 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
🗑
|
Review the information in the table. When you are ready to quiz yourself you can hide individual columns or the entire table. Then you can click on the empty cells to reveal the answer. Try to recall what will be displayed before clicking the empty cell.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Created by:
KChatham
Popular Genetics sets