Dysmorphology Short

Question 1

Hemihypertrophy DDx?

Answer 1

Russel-Silver
Beckwith-Weidemann
McCune-Albright
Proteus

Question 2

Neurofibromatosis Type 1
(Diagnostic criteria, associated features/complications)

Answer 2

Diagnostic criteria
1. ≥6 CAL Macules (>5mm pre-pubertal; >15mm post-pubertal)
2. ≥2 neurofibroma or 1 plexiform neurofibroma
3. axillary or inguinal freckling
4. optic glioma
5. ≥ 2 Lisch nodules (iris hamartomas)
6. Family history

Associations/Complications
- macrocephaly
- short stature
- HTN (renal artery stenosis, pheochromocytoma)
- Mild learning difficulties
- Malignancy: optic glioma, astrocytoma, schwannoma, rhabdomyosarcoma
- Scoliosis and osseous lesions (e.g. kyphoscolisoos, tibial bowling, pseudoarthrosis)

Question 3

Conditions with cafe-au-lait spots

Answer 3

1. Ataxia telangiectasoia
2. Tuberous sclerosis
3. Fanconi Anaemia
4. McCune-Albright Syndrome
5. Russell-Silver Syndrome
6. Bloom’s Syndrome
7. Gaucher’s disease
8. Chediak-Higashi Syndrome
9. Normal Variant