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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/Craniosynostosis]

When positional plagiocephaly stops progressing?

A

By 7 months of age

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3
Q

[Gen/Craniofacial]

Characteristics of Goldenhar syndorme? (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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4
Q

[Gen/Craniofacial]

Name of anomaly?
Name of syndrome?

With craniofacial microsomia

A

Epibulbar lipodermoids
Goldenhar syndrome

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5
Q

[Gen/Craniofacial]

Characteristics of Branchio-Oto-Renal syndrome? (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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6
Q

[Gen/Craniofacial/TCS]

Another name for Treacher-Collins syndrome?

A

Mandibulofacial dysostosis

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7
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
(Mandibulofacial dysostosis)

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8
Q

[Gen/Craniofacial/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/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).
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10
Q

[Gen/Craniofacial/Waardenburg]

Genetic cause of Waardenburg syndrome type I?

A

PAX3

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11
Q

[Gen/Craniofacial]

GI disorder always associated with Waardenburg syndrome type 4?

A

Hirschprung disease

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12
Q

[Gen/Craniofacial/Waardenburg]

Inheritance pattern of Waardenburg syndrome type I?

A

Autosomal dominant, de novo

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13
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
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14
Q

[Gen/Craniofacial/Stickler]

Genetic cause of Stickler syndrome? (2)

A

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

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15
Q

[Gen/Craniofacial/Craniosynostosis]

Most common suture fusion for craniosynostosis (4)? (descending order)

A
  1. Sagittal
  2. Coronal
  3. Metopic
  4. Lambdoid
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16
Q

[Gen/Craniofacial/Craniosynostosis]

Male to female ratio of sagittal craniosynostosis?

A

Male to Female 5:1

17
Q

[Gen/Craniofacial/Craniosynostosis]

Type of cranial deformity from Sagittal craniosynostosis malformations?

A

Scaphocephaly (Dolichocephaly)

18
Q

[Gen/Craniofacial/Craniosynostosis]

Metopic craniosynostosis malformations?

A

Trigonocephaly

19
Q

[Gen/Craniofacial/Craniosynostosis]

Cone-shaped head?

A

Turricephaly

20
Q

[Gen/Craniofacial/Craniosynostosis]

Syndromic craniosynostosis? (6)

A
  1. Crouzon
  2. Aspert
  3. Carpenter
  4. Pfeiffer
  5. Jackson-Weiss
  6. Muenke
21
Q

[Gen/Craniofacial/Craniosynostosis]

Which craniosynostosis syndrome?

Variable multisuture craniosynostosis
Facial features (significant proptosis, external strabismus, midface retrusion, convex nasal ridge, and relative prognathism)
Hearing loss (mostly conductive)
Vertebral fusion (mostly C2-3)
Normal to mild developmental delay/intellectual disability

A

Crouzon
(FGFR2 100%)

22
Q

[Gen/Craniofacial/Craniosynostosis/Crouzon]

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

A

Autosomal dominant
FGFR2, 100%

23
Q

[Gen/Craniofacial/Craniosynostosis]

Which craniosynostosis 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
  7. Intellectual diability (50%)
A

Apert syndrome
(FGFR2, 100%)

24
Q

[Gen/Craniofacial/Craniosynostosis/Apert]

Apert syndrome

Inheritance pattern?
Genetic cause?

A

Autosomal dominant
FGFR2

25
Q

[Gen/Craniofacial/Craniosynostosis]

Which craniosynostosis syndrome?

  1. Multisuture craniosynostosis with proptosis and prognathism
  2. Broad and medially deviated great toes, with 2/3 toe syndactyly
  3. Multilevel airway obstruction
  4. Hearing loss
  5. Normal intellect
A

Jackson-Weiss
(FGFR2, 100%)

26
Q

[Gen/Craniofacial/Craniosynostosis]

Which craniosynostosis syndrome?

  1. Uni- or bicoronal craniosynostosis
  2. Carpal and tarsal fusions
  3. Broad thumbs and great toes
  4. Osteochondroma
  5. Intelligence normal to mild
A

Muenke syndrome
FGFR3 pathogenic variant c.749C>G (p.Pro250Arg)

27
Q

[Gen/Craniofacial/Craniosynostosis]

Genetic cause of Muenke syndrome?

A

FGFR3 pathogenic variant c.749C>G (p.Pro250Arg)

28
Q

[Gen/Craniofacial/Craniosynostosis]

Which craniosynostosis syndrome?

  1. Multisuture craniosynostosis
  2. Choanal stenosis/atresia, laryngotracheal abnormalities
  3. Thumbs and great toes are broad and medially deviated, brachydactyly
  4. ± fusions at elbows and knees, ± sacral appendage
  5. Intellectual disability (normal to severe)
A

Pfeiffer syndrome
(FGFR2 >95%, FGFR1 <5%)

2. Genetics (22 decks)

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