Congenital / metabolic

Question 1

Long term sequelae of galactosemia (even if well controlled)? (10
Long term sequelae specific to females? (1)

Answer 1

• Developmental / speech delays

- Premature ovarian failure

Question 2

Prune belly syndrome (3)

Answer 2

1. B/L hydroutereral nephrosis
2. undescended testes
3. diminished / absent anterior abdominal wall musculature.

First test: RUS

Question 3

Turners characteristics (5)

Answer 3

1. Gonadal failure
2. shield chest
3. webbed neck
4. short stature
5. low posterior hairline

Question 4

Pes caves / distal hand or foot muscles weakness / atrophy / mild to mod sensory loss +/- dec DTRs?

Answer 4

Charcot-Marie-Tooth disease (many types /AD / incomplete penetrance)

Question 5

Hypophosphatemic rickets:

1. Mode of transmission?
2. Clinical features? (4)
3. Lab abnormalities (PO4 / Ca / Alk phos / 1,25 Vit D / PTH)
4. Tx?

Answer 5

1. X-linked dominant (females phenotype less severe than males)
2. Short stature, frontal bossing, recurrent dental abscesses, genu varum
3. Low PO4 / normal Ca / high AP / low 1,25 vit D / high normal PTH
4. PO4 and vitamin D supplements

Question 6

DiGeorge babies present with what electrolyte abnormality?

Answer 6

Hypocalcemia 2/2 hypoPTH

Question 7

Features of Rett syndrome (6):

Answer 7

1. Normal development until 6-18months, then regression
2. episodec hyperpnea / apnea
3. seizures
4. ataxia
5. acquired microcephaly
6. hand-wringing

Question 8

Features of Angelman’s (3):

Answer 8

1. Acquired microcephaly
2. Ataxia
3. neurodevelopmental disability

Question 9

Features of Smith-Lemli-Opitz (8):

Answer 9

1. Syndactyly
2. Polydactyly
3. Cleft palate
4. cardiac defects
5. renal malformations
6. hypospadias
7. microcephaly
8. dystonia
9. seizures

Question 10

Next step in child w/translocation:

Answer 10

Chromosomal analysis of parents to determine translocation carrier status and risk in future pregnancies

Question 11

Fetal alcohol syndrome:

1. Facial anomalies (3)
2. Growth? (3)
3. Behavior? (1)
4. Miscellaneous?

Answer 11

1. Face: Short palpebral fissures, Smooth philtrum, Narrow vermilion border
2. Weight, height and HC all <10%
3. Tremulousness, irritable (can continue for months)
4. Hirsute (disappears after 6 months)

Question 12

Features of the fetal ‘akinesia’ sequence a/w arthrogryposis? (4)

Answer 12

1. Decreased fetal movement
2. Polyhydramnios
3. Short umbilical cord
4. Multiple contractures affecting 2 or more different parts of the body