Pediatric

Question 1

VACTERL syndrome

Answer 1

Vertebral anomalies (67%)

Anal atresia (~55%)

Cardiac defects (i.e. Tetralogy of Fallot) (73%)

Tracheoesophageal Fistula or Esophageal fistula (70%)

Renal anomalies (50%)

Limb defects

Unknown cause. can be linked with other conditions i.e. Klippel Feil, Goldenhar Syndrome

Question 2

Genetic syndromes associated with hearing loss

• AD
• AR
• X-linked
• Mitochondrial

Answer 2

Autosomal dominant

• Branchio-oto-renal syndrome
• NF2
• Stickler
• Treacher-Collins
• Waardenburg

Autosomal recessive

• Pendred
• Jervell and LAnge-Nielsen
• Usher
• Biotinidase deficiency
• Refsum Disease

X-linked syndromes

• Alport syndrome
• Mohr-Tranebjaerg
• Norrie syndrome (recessive)

Question 3

BOR

Question 4

Neurofibromatosis Type 2

Answer 4

Gene:

Diagnosis:

• bilateral vestibular schwannomas developing by 2nd decade of life
• family history of NF2 in 1st degree relative plus one of:
  *

Question 5

Stickler syndrome

Answer 5

Gene

Diagnosis

Face

Question 6

Waardenburg Syndrome

Question 7

Treacher-Collins Syndrome

Question 8

CHARGE syndrome

Answer 8

Coloboma of the eye

Heart defects

Atresia (nasal choanae)

Retardation of growth or development

GU and urinary abnormalities

• hypospadias or crytorchidism

Ear abnormalities or deafness

• lop ears

Leading cause of congenital deafblindness

Genetics: variable expression, 60% of individuals have mutation on CHD7 gene

Diagnosis: clinical findings and gene testing for CHD7 mutation

Question 9

DiGeorge syndrome

Answer 9

Presentation: triad of features - conotruncal cardiac anomalies, hypoplastic thymus (SCID), hypocalcemia (parathyroid hypoplasia)

Pathophysiology: defective development of pharyngeal pouch system

Genetics: most due to heterozygous chromosomal deletion at 22q11.2 (microdeletion also associated with velocardial syndrome)

Diagnosis:reduced numbers of T cells with clinical findings

Diagnostic criteria for DiGeorge syndrome
Definitive diagnosis*
Male or female patient with reduced numbers of CD3+ T cells (less than 500/mm3) and two of the three following characteristics:
1. Conotruncal cardiac defect (truncus arteriosus, tetrology of Fallot, interrupted aortic arch, or aberrant right subclavian).
2. Hypocalcemia of greater than 3 weeks’ duration that requires therapy.
3. Deletion of chromosome 22q11.2.
Probable diagnosis*
Male or female patient with reduced numbers of CD3+ T cells (less than 1500/mm3) and a deletion of chromosome 22q11.2.
Possible diagnosis*
Male or female patient with reduced numbers of CD3+ T cells (less than 1500/mm3) and at least one of the following:
1. Cardiac defect.
2. Hypocalcemia of greater than 3 weeks’ duration that requires therapy.
3. Dysmorphic facies or palatal abnormalities.

Question 10

Norrie Disease

Answer 10

Inherited eye disorder leading to blindness in male infants at birth or soon after (abnormal development of retina).

Clinical findings

• leukocoria - white pupils when light shone in, retina is immature
• 1/3rd of individuals with this disease develop progressive HL
• DD with motor skills
• possible psychosis, circulation, breathing, digestion, excretion, reproduction difficulties

Genetics: mutations in NDP gene (norrin), participates in Wnt cascade

Question 11

Usher syndrome

Question 12

Down syndrome physical features (10 cardinal features)

Answer 12

1. flat facial profile (90%)
2. poor moro reflex
3. hypotonia
4. hyperflexibility of joints
5. excess skin on back of neck
6. slanted palpebral fissures
7. dysplastic pelvis
8. anomalous auricles
9. dysplasia of midphlanx of 5th finger
10. simian crease (45%)

Question 13

Kartagener syndrome

Question 14

Staging for orbital infections, Chandler classification (5 stages)

Answer 14

1. preseptal cellulitis
2. orbital cellulities (post septal)
3. subperiosteal abscess
4. orbital abscess
5. cavernous sinus thrombosis