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2. Genetics > Skeletal Dysplasia > Flashcards

Skeletal Dysplasia Flashcards

1
Q

[Gen/Skeletal]

Most common skeletal dysplasia?

A

Achondroplasia

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2
Q

[Gen/Skeletal]

Achondroplasia heritance pattern and penetrance?

A

Autosomal dominant
Complete penetrance

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3
Q

[Gen/Skeletal/Achondroplasia]

Facial characteristics of achondroplaisa? (4)

A
  1. Macrocephaly
  2. Prominent forehead
  3. Flat nasal bridge
  4. Midfacial hypoplasia
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4
Q

[Gen/Skeletal]

Name of syndrome?
Short stature, Trident hands
square ilia and horizontal acetabula, proximal femoral scooping

A

Achondroplasia

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5
Q

[Gen/Skeletal/Achondroplasia]

Body characteristics of achondroplasia? (3)

A
  1. Rhizomelic shortnening
  2. Lumbar lordosis
  3. Trident hands
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6
Q

[Gen/Skeletal/Achondroplasia]

Causal gene and common mutation for achondroplasia (2)?

A

FGFR3 c.1138G>A (p.Gly380Arg) (98%)
FGFR3 c.1138G>C (p.Gly380Arg) (2%)

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7
Q

[Gen/Skeletal/Achondroplasia]

Potential cause of death in infancy for achondroplasia? (2)

A
  1. Foramen magnum stenosis
  2. Craniocervical junction abnormalities
    -> compression of the upper cord
    -> apnea, quadriparesis, hydrocephalus
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8
Q

[Gen/Skeletal/CCD]

Genetic cause of cleidocranial dysostosis (CCD)?

A

RUNX2

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9
Q

[Gen/Skeletal/CCD]

Major characteristic of cleidocranial dysostosis?

A

Hypoplastic/absent clavicles

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10
Q

[Gen/Skeletal]

Different name of infantile cortical hyperostosis?

A

Caffey disease

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11
Q

[Gen/Skeletal/Caffey]

Radiographic findings of infantile cortical hyperostosis?

A

Subperiosteal cortical thickening

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12
Q

[Gen/Skeletal/Caffey]

Symptoms of infantile cortical hyperostosis (Caffey)?

A

Painful, soft tissue swelling, indurated without suppuration

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13
Q

[Gen/Skeletal/Caffey]

Most common bone involved in infantile cortical hyperostosis (Caffey)?

A

Mandible (>95%)

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14
Q

[Gen/Skeletal/Caffey]

Common age of onset and resolution of infantile cortical hyperostosis (Caffey)?

A

Before 6 months and resolve by 24 months

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15
Q

[Gene/Skeletal&hem]

FA vs DBA vs TAR

Congenital severe aplastic anemia, usually diagnosed by 5-7 years of age
hyper-/hypopigmentation and cafe au lait spots
skeletal anomalies
Thumb hypoplasia

A

Fanconi anemia

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16
Q

[Gene/Skeletal&hem]

FA vs DBA vs TAR

Congenital hypoplastic anemia, profound macrocytic anemia by 2-6 months
Craniofacial defects
Short stature
Thumb/limb abnormalities

A

Diamond-Blackfan anemia

17
Q

[Gene/Skeletal&hem]

FA vs DBA vs TAR

Isolated thrombocytopenia, and absent bilateral radii. Thumbs are always present!

A

Thrombocytopenia-absent radius syndrome

18
Q

[Gene/Skeletal&hem]

Characteristics of Diamond-Blackfan anemia? (4)

A
  1. Profound normochromic macrocytic anemia
  2. Congenital malformations
    craniofacial, upper-limb, heart, and genitourinary malformations
  3. Growth deficiency
  4. Increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors (osteogenic sarcoma)
19
Q

[Gene/Skeletal&hem]

Characteristics of Thrombocytopenia absent radius (TAR) syndrome? (5)

A
  1. Bilateral absence of the radii with the presence of both thumbs
  2. Thrombocytopenia (generally transient)
  3. Cow’s milk allergy
  4. Skeleton anomalies (upper and lower limbs, ribs, and vertebrae),
  5. Genitourinary anomalies (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina)
20
Q

[Gene/Skeletal&hem/TAR]

Genetic cause of Thrombocytopenia absent radius (TAR) syndrome?

A

heterozygous null allele (most often a minimally deleted 200-kb region at chromosome band 1q21.1)
in trans with a heterozygous RBM8A

21
Q

[Gen/Skeletal/HOS]

Characteristics of Holt-Oram syndrome (2)

A
  1. Upper-limb defects
    triphalangeal, absent thumb, phocomelia
    aplasia or hypoplasia of the radius
    fusion or anomalous development of the carpal and thenar bones
  2. Congenital heart malformation (VSD, ASD) or Cardiac conduction disease (Sinus bradycardia, AV block)
22
Q

[Gen/Skeletal]

Name of syndrome?
Upper-limb defects, congenital heart malformation, and cardiac conduction disease.

A

Holt-Oram syndrome

23
Q

[Gen/Skeletal/HOS]

Genetic cause of Holt-Oram syndrome?

24
Q

[Gen/Skeletal]

Name of syndrome?

A

Klippel-Feil syndrome

25
Q

[Gen/Skeletal/KFS]

Characteristics of Klippel-Feil syndrome? (4)

A
  1. an abnormal fusion of 2 or more bones in the cervical spine
  2. short neck, resulting facial asymmetry, low hairline, and limited neck mobility
  3. chronic headaches, limited range of neck motion, and neck muscle pain
  4. spinal stenosis, neurologic deficit, cervical spinal deformity, instability, and spinal stenosis

2. Genetics (22 decks)

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