Pediatrics Section 2: Chromosomal & Teratologic disorder

Question 1

Down syndrome

Answer 1

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

Question 2

Turner Syndrome

Answer 2

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

Question 3

Noonan syndrome

Answer 3

• Identical to Turner syndrome except:
  
  • NORMAL SEXUAL DEVELOPMENT
  • MR

Question 4

Prader-Willi syndrome

Answer 4

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

Question 5

Menkes syndrome

Answer 5

• Kinky hair
• Sex-linked recessive
• Disorder of copper transport

Question 6

Rett syndrome

Answer 6

• 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)

Question 7

Beckwith-Wiedemann syndrome

Answer 7

• 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

Question 8

Fetal alcohol syndrome

Answer 8

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