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2. Genetics > Skeletal Dysplasia > Flashcards

Skeletal Dysplasia Flashcards

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1
Q

[Skeletal dysplasia]
Most common skeletal dysplasia?

A

Achondroplasia

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2
Q

[Skeletal]
Achondroplasia heritance pattern and penetrance?

A

Autosomal dominant, complete penetrance

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3
Q

[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

[Skeletal dysplasia]
Name of syndrome?
Short stature, Trident hands

A

Achondroplasia

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5
Q

[Skeletal/Achondroplasia]
Body characteristics of achondroplasia? (3)

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

[Skeletal/Achondroplasia]
Causal gene for achondroplasia?

A

FGFR3 at 4p16.3

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7
Q

[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

[Skeletal/Achondroplasia]
Symptoms of achondroplasia? (4)

A
  1. Serous otitis media
  2. Motor milestone delay
  3. Bowing of legs
  4. Orthodontic problems
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9
Q

[Skeletal/Achondroplasia]
Characteristic X-ray findings of achondroplasia? (4)

A
  1. Squared-off iliac wings
  2. Flat/irregular acetabulum roofs
  3. thick femoral necks
  4. Ice-cream-scoop shaped femoral heads
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10
Q

[Skeletal/Achondroplasia]
Genetic cause of cleidocranial dysostosis?

A

RUNX2

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11
Q

[Skeletal/cleidocranial dysostosis]
Major characteristic of cleidocranial dysostosis?

A

Hypoplastic/absent clavicles

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12
Q

[Skeletal dysplasia]
Different name of infantile cortical hyperostosis?

A

Caffey disease

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13
Q

[Skeletal/Caffey]
Radiographic findings of infantile cortical hyperostosis?

A

Subperiosteal cortical thickening

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14
Q

[Skeletal/ICH]
Symptoms of infantile cortical hyperostosis (Caffey)?

A

Painful, soft tissue swelling, indurated without suppuration

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15
Q

[Skeletal/ICH]
Most common bone involved in infantile cortical hyperostosis (Caffey)?

A

Mandible (>95%)

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16
Q

[Skeletal/ICH]
Common age of onset and resolution of infantile cortical hyperostosis (Caffey)?

A

Before 6 months and resolve by 24 months

17
Q

[Skeletal and hematology]
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

18
Q

[Skeletal and hematology]
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

19
Q

[Skeletal and hematology]
FA vs DBA vs TAR

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

A

Thrombocytopenia-absent radius syndrome

20
Q

[Skeletal&anemia/DBA]
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)
21
Q

[Skeletal&anemia/TAR]
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)
22
Q

[Skeletal&anemia/TAR]
Genetic cause of Thrombocytopenia absent radius (TAR) syndrome?

A

RBM8A

23
Q

[Skeletal&anemia/TAR]
Inheritance pattern of Thrombocytopenia absent radius (TAR) syndrome?

A

Autosomal recessive or de novo

24
Q

[Skeletal dysplasia]
Name of syndrome?

  1. Distinctive facial features
    - downslanted palpebral fissures
    - low-hanging columella
    - high palate
    - grimacing smile
    - talon cusps
  2. Broad and often angulated thumbs and halluces
  3. Short stature: height, weight, and head circumference percentiles rapidly drop in the first few months of life
  4. Moderate-to-severe intellectual disability
A

Rubinstein-Taybi syndrome

25
Q

[Skeletal dysplasia]
Name of syndrome?

Hypoplastic/absent clavicles

A

Cleidocranial dysostosis

26
Q

[Skeletal and hematology]
Most common type of anemia for Diamond-Blackfan anemia?

A

Normochromic macrocytic

27
Q

[Skeletal - HOS]
Characteristics of Holt-Oram syndrome (3)

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
  3. Cardiac conduction disease
    - Sinus bradycardia, AV block
28
Q

[Skeletal]
Name of syndrome?

With cardiac conduction disease

A

Holt-Oram syndrome

29
Q

[Skeletal/HOS]
Genetic cause of Holt-Oram syndrome?

A

TBX5

30
Q

[Skeletal/HOS]
Inheritance pattern of Holt-Oram syndrome

A

Autosomal dominant, de novo (85%)

31
Q

[Skeletal]
Name of syndrome?

A

Klippel-Feil syndrome

32
Q

[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
33
Q

[Skeletal/hematology, Chr instability/Fanconi]
Clinical features of Fanconi anemia? (3)

A
  1. Physical abnormalities
    - short stature, CAL, hypopigmentation, skeletal malformations of the upper and/or lower limbs
    - microcephaly, and ophthalmic and genitourinary tract anomalies
  2. Bone marrow failure
    - initially thrombocytopenia or leukopenia
  3. increased risk for malignancy
    - acute myeloid leukemia, solid tumors

2. Genetics (19 decks)

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