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2. Genetics > Craniofacial > Flashcards

Craniofacial Flashcards

1
Q

[Gen/Craniofacial]

Usual correction ages for cleft lip and palate?

A

Lip between 2 and 6 months
Palate between 9 and 18 months

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2
Q

[Gen/Craniofacial/PRS]

Clinical triad of Pierre Robin sequence?

A
  1. micrognathia
  2. glossoptosis (cleft palate)
  3. upper airway obstruction (pulmonary hypertension)
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3
Q

[Gen/Craniofacial/CMS]

Frequent co-existing anomalies with craniofacial microsomia? (2)

A
  1. Cervical vertebral anomalies
  2. Cardiac anomalies
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4
Q

[Gen/Craniofacial/CMS/Goldenhar]

Characteristics of Goldenhar syndorme, craniofacial microsomia syndrome? (6)

A
  1. Epibulbar lipodermoids
  2. Vertebral defects
  3. Cardiac anomalies
  4. Renal anomalies
  5. Preauricular/facial tag
  6. Hearing loss
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5
Q

[Gen/Craniofacial/CMS]

Examples of craniofacial microsomia syndromes? (3)

A
  1. Goldenhar syndrome
  2. Branchio-Oto-Renal syndrome
  3. Treacher-Collins syndrome
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6
Q

[Gen/Craniofacial/CMS/BOR]

Characteristics of Branchio-Oto-Renal syndrome, craniofacial microsomia syndromes? (5)

A
  1. Branchial cleft fistulas/cysts
  2. Preauricular pits
  3. Cochlear/stapes malformation, hearing loss
  4. Renal displasia
  5. Pulmonary hypoplasia
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7
Q

[Gen/Craniofacial/CMS/TCS]

Another name for Treacher-Collins syndrome, craniofacial microsomia syndromes?

A

Mandibulofacial dysostosis

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8
Q

[Gen/Craniofacial/CMS/TCS]

Eye characteristics of Treacher-Collins syndrome? (2)

A
  1. Hypoplastic lower eyelids
  2. Absent lower-eyelid eyelashes
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9
Q

[Gen/Craniofacial/Craniosynostosis]

Most common suture fusion for craniosynostosis? (descending order)

A
  1. Sagittal
  2. Coronal
  3. Metopic
  4. Lambdoid
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10
Q

[Gen/Craniofacial/Craniosynostosis]

Male to female ratio of sagittal craniosynostosis?

A

Male to Female 5:1

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11
Q

[Gen/Craniofacial/Craniosynostosis]

Type of cranial deformity from Sagittal craniosynostosis malformations?

A

Scaphocephaly (Dolichocephaly)

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12
Q

[Gen/Craniofacial/Craniosynostosis]

Metopic craniosynostosis malformations?

A

Trigonocephaly

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13
Q

[Gen/Craniofacial/Craniosynostosis]

Cone-shaped head?

A

Turricephaly

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14
Q

[Gen/Craniofacial/Craniosynostosis]

Syndromic craniosynostosis? (4)

A
  1. Crouzon
  2. Aspert
  3. Carpenter
  4. Pfeiffer
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15
Q

[Gen/Craniofacial/Craniosynostosis]

When positional plagiocephaly stops progressing?

A

By 7 months of age

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16
Q

[Gen/Craniofacial/Waardenburg]

Type of disorder Waardenburg syndrome type I (WS1)?

A

Auditory-pigmentary disorder

17
Q

[Gen/Craniofacial/Waardenburg]

Characteristics of Waardenburg syndrome type I? (3)

A
  1. Congenital sensorineural hearing loss
  2. Pigmentary disturbances of the iris, hair, and skin
    a white forelock or early graying of the scalp hair
    heterochromia iridium
    congenital leukoderma
  3. Dystopia canthorum (lateral displacement of the inner canthi).
18
Q

[Gen/Craniofacial/Waardenburg]

Genetic cause of Waardenburg syndrome type I?

A

PAX3

19
Q

[Gen/Craniofacial/Waardenburg]

Inheritance pattern of Waardenburg syndrome type I?

A

Autosomal dominant, de novo

20
Q

[Gen/Craniofacial/Stickler]

Characteristics of Stickler syndrome? (4)

A
  1. Eye: myopia, cataract, and retinal detachment
  2. Hearing loss: conductive and sensorineural
  3. Midfacial underdevelopment, Cleft palate (either alone or as part of the Robin sequence)
  4. Mild spondyloepiphyseal dysplasia and/or precocious arthritis
21
Q

[Gen/Craniofacial/Stickler]

Genetic cause of Stickler syndrome? (2)

A

COL2A1 (80%-90%)
COL11A1 (10%-20%)

22
Q

[Gen/Craniofacial/Crouzon]

Characteristics of Crouzon syndrome? (4)

A
  1. Craniosynostosis
  2. Facial features (significant proptosis, external strabismus, midface retrusion, convex nasal ridge, and relative prognathism)
  3. Hearing loss (mostly conductive)
  4. Vertebral fusion (mostly C2-3)
    Normal to mild developmental delay/intellectual disability
23
Q

[Gen/Craniofacial/Crouzon]

Inheritance pattern of Crouzon syndrome?
Genetic cause of Crouzon syndrome?

A

Autosomal dominant
FGFR2, 100%

24
Q

[Gen/Craniofacial/Apert]

Apert syndrome

Inheritance pattern?
Genetic cause?

A

Autosomal dominant
FGFR2

25
Q

[Gen/Skeletal dysplasia]

Name of syndrome?

A

Cleidocranial dysostosis

26
Q

[Gen/Craniofacial]

Name of syndrome?

  1. Multisuture craniosynostosis (mostly coronal)
  2. Midface retrusion, +/- cleft palate
  3. Syndactyly of the hands with fusion of the second through fourth nails
  4. Dental abnormalities
  5. Hearing loss
  6. Hyperhidrosis
A

Apert syndrome

27
Q

[Gen/Craniofacial]

Name of syndrome?

  1. Coloboma
  2. Zygomatic arch cleft
  3. Choanal atresia
  4. Ear malformations, Hearing loss
  5. Micrognathia
A

Treacher-Collins syndrome

28
Q

[Gen/Craniofacial]

Name of anomaly?
Name of syndrome?

With craniofacial microsomia

A

Epibulbar lipodermoids
Goldenhar syndrome

29
Q

[Gen/Craniofacial]

GI disorder always associated with Waardenburg syndrome type 4?

A

Hirschprung disease

2. Genetics (19 decks)

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