Pediatrics Section 2: Chromosomal & Teratologic disorder Flashcards Preview

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Flashcards in Pediatrics Section 2: Chromosomal & Teratologic disorder Deck (8)
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1
Q

Down syndrome

A
  • Atlantoaxial instability - loss of motor milestones
  • Hip instability
  • Patellar dislocation
  • Chromo 21 codes for type VI collagen –> abnormal type VI collagen –> overall ligamentous laxity
2
Q

Turner Syndrome

A
  • Female
  • Short stature with webbed neck
  • LACK OF SEXUAL DEVELOPEMENT
  • Predisposed to melignant hyperthermia
  • 45X
3
Q

Noonan syndrome

A
  • Identical to Turner syndrome except:
    • NORMAL SEXUAL DEVELOPMENT
    • MR
4
Q

Prader-Willi syndrome

A
  • MR
  • Insatiable appetite –> obese adults
  • Hypoplastic genetalia
  • Partial chromo 15 deletion
5
Q

Menkes syndrome

A
  • Kinky hair
  • Sex-linked recessive
  • Disorder of copper transport
6
Q

Rett syndrome

A
  • Girls 6-18 months (boys with only one X-chromo dont survive) –> X-linked
  • Abnormal hand movements initially
  • Then loss of developmental milestones
  • Methyl-CpG-binding protein 2 (MECP2)
  • Severe scoliosis (C-shaped curve)
7
Q

Beckwith-Wiedemann syndrome

A
  • Major Criteria
    1. Organomegaly
    2. Omphalocele
    3. Large tongue
  • Minor criteria
    1. Hemihypertrophy
    2. Wilms tumor predisposition
    3. Infantile hypoglycemia - islet cell hypertrophy
    4. Ear anomalies
8
Q

Fetal alcohol syndrome

A
  • Hip dislocation
  • Congenital fusions of:
    • Cervical spine
    • Upper extremity
  • Scoliosis
  • Myelodysplasia