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Skeletal Dysplasia Flashcards

1
Q

Achrondoplasia

A

Inheritance: Autosomal dominant
Gene: FGFR3
**98% of cases due to transition pt mutation, c.1138G?A (p.G380R)
***80% de novo–> associated w/ APA

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2
Q

Antley-Bixler syndrome

A

Inheritance:Autosomal recessive
Gene: FGFR2, POR

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3
Q

Cleidocranial Dysplasia

A

Inheritance:Autosomal dominant
Gene: RUNX2 (CBFA1)

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4
Q

Diastrophic Dysplasia

A

Inheritance: Autosomal dominant
Gene: SLC26A2

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5
Q

FGFR2-Related Disorders

A

Inheritance:Autosomal dominant
Gene: FGFR2 (FGFR1 may cause Pfeiffer, FGFR3 may cause Crouzon)
Apert, Pfeiffer, Crouzon syndromes

FGFR2= Apples, pepper, croutons!

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6
Q

Crouzon syndrome

A

May be caused by FGFR3

Features:

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7
Q

Hypochondroplasia

A

Inheritance: Autosomal dominant
Gene: FGFR3
**70% due to transversion pt mutation @ c.1620C>A
**30% due to transversion pt mutation @ c.1620C>G

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8
Q

McCUne Albright syndrome

A

Inheritance: Somatic post-zygotic mutation, typically results in mosaicism
Gene: GNAS1

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9
Q

Muenke syndrome

A

Inheritance: Autosomal dominant
Gene: FGFR3

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10
Q

Multiple exotoses

A

Inheritance:Autosomal dominant
Gene: EXT1, EXT2
**Slightly reduced penetrance in women (96%), fully in men

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11
Q

Saethre-Chotzen syndrome

A

Inheritance:Autosomal dominant
Gene: TWIST

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12
Q

Thanatophoric Dysplasia

A

Inheritance:Autosomal dominant
Gene: FGFR3

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13
Q

Achrondoplasia: Features

A
  • Normal intellect
  • Rhizomelic shortening
  • Trident hands
  • Brachydactyly
  • Frontal bossing
  • Kyphosis or lordosis
  • Bow-leg or knock knee leg deformities
  • Sleep apnea
  • Higher risk for obesity
  • Hydrocephalus
  • Delayed motor milestones
  • Normal life span
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14
Q

Antley-Bixler syndrome: Features

A
  • Brachycephaly
  • Bulging eye (Proptotic exophthalmos)
  • Arachnodactyly
  • Craniosynostosis
  • Facial hypoplasia
  • Bowed ulna and femur
  • Radial, humeral, and trapezoidal stenosis
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15
Q

Cleidocranial Dysplasia: Features

A
  • Partial or complete absence of the clavicles
  • Prognathia, micrognathia
  • Failure or late closure of the fontanelle
  • Failure of cranial stutures to close
  • Underdeveloped joints
  • Supernumerary teeth/delayed tooth eruption
  • Frontal bossing
  • Hypertelorism
  • Delayed ossification
  • Cox vara hip deformity
  • Vertebral anomalies
  • Scoliosis
  • Spina bifida
  • Brachydactyly
  • Shorter stature when compared to unaffected sibs
  • Mild motor delay
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16
Q

Antley-Bixler syndrome: Other Features

A
  • ID
  • Hydrocephalus
  • Upper airway obstruction
  • Early death primarily due to respiratory concerns
  • Camptodactyly
  • Nasal, anal, and vaginal atresia
  • Cryptorchidism
  • Renal malformations
17
Q

Diastrophic Dysplasia

A 
Major features: 
●Respiratory insufficiency in newborns
●“Unusual” Clubfoot-->Inward and upward-turning foot
●Scoliosis
●“Hitchhiker thumbs”
●Cleft palate
●Restricted joint mobility
●Severe lumbar lordosis
●Valgus deformities
●Toe walking/standing due to severe club foot and shortened tendons
●Brachydactyly
●Phalangeal synostosis with disability
●Broad forehead with high anterior hairline
●Cystic ear swelling
●Short stature
●Spinal cord compression
●Normal intellect
18
Q

Apert syndrome

A

●Craniosynostosis
●Radially deviated short thumb
●Syndactyly
●Omphalocele

19
Q

Pfeiffer syndrome

A

●Craniosynostosis–>May exhibit cloverleaf skull (also seen in thanatophoric dysplasia)
●Bulging eyes
●High, prominent forehead
●Hearing loss
●Dental malocclusion
●Wide thumbs/large toes which bend outward from other digits
●Brachydactyly and/or syndactyly
●Type 1 is associated with FGFR2/AD inheritance and normal lifespan/intelligence
●Types 2 and 3 are sporadic and severe and often result in early death

20
Q

Crouzon syndrome

“Branchial arch syndrome”

A 
●Craniosynostosis
●Brachycephaly
●Bulging eyes
●“Beak-like” nose
●Strabismus
●Prognathic profile
●CHDs – PDA and aortic coarctation

If treated for cranial vault symptoms, lifespan is normal

21
Q

Hypochondroplasia

A 
●	“Normal” appearance at birth
●Decreased growth velocity in childhood
●Disproportionately short limbs
●Broad, short hands and feet
●Mild joint laxity
●Macrocephaly
●Usually normal intelligence
●Scoliosis
●Shortening of the long bones with metaphyseal flare
●Similar but milder skeletal features as in achondroplasia
22
Q

McCune-Albright syndrome

A 
●Coast of Maine café au lait macule
     oDistribution of macules along the midline
●Fibrous dysplasia
     oCan involve any part/combination of craniofacial, axial, and/or appendicular skeleton
●Endocrine dysfunction
     oUbiquitous overexpression of hormones
     oHyperthyroidism
     oCushing syndrome
     oPrecocious puberty
     oOvarian cysts
     oTesticular lesions
     oExcess growth hormone
    oExcess cortisol
23
Q

Muenke syndrome

A 
●Craniosynostosis
●Abnormally shaped head (even if craniosynostosis is not present as other parts of the skull may be malformed)
●Hypertelorism
●Hearing loss
●Developmental delay
●Some may have learning disabilities
●Slightly reduced penetrance (93-94%)
24
Q

Multiple exotoses

A

●Multiple osteochondromas (cartilage-capped bone tumors)
oLow malignant potential to develop into osteochondrosarcoma (increases with age but lifetime risk is ~1%)
oTypically develop in areas of active bone growth (growth plate)
oCan lead to shortening or bowing of bones/short stature
oCan decrease range of motion

25
Q

Saethre-Chotzen Syndrome

A 
●Craniosynostosis
●Acrocephaly (cone-shaped head)
●Lop-sided face
●Syndactyly, brachydactyly
●Valgus deformity
●Optic atrophy
●Vision problems
●Small, low-set ears
●Cleft palate/high-arched palate
●Malocclusion, peg teeth
●Ptosis, strabismus, down-slanting palpebral fissures
●Short stature
●CHDs
26
Q

Thanatophoric dysplasia

A

●Short-limb dwarfism
●Micromelia
●Short ribs
●Macrocephaly
●Brachydactyly
●Redundant skin folds on arms
●Dysmorphic facies
●Most die of respiratory insufficiency shortly after birth
Type I can be distinguished by bowed femurs
TYPE II CAN BE DISTINGUISHED BY CLOVERLEAF SKULL DEFORMITY
Thanatophoric means “death bearing”

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