Short Statue

Question 1

Ddx of Short Statue

Answer 1

BENIGN
1. Familial shortness
2. Constitutional delay
PATHOLOGICAL
(Proportional)
1. Emotional deprivation
2. IUGF - Chromosomal (Down’s, Turners), Congenital TORCH infections, Drugs, irradiation, IUGR (Russell Silver Syn)
3. Syndromes : Prada Wili Syndrome, Lawrence Moon Biedl Syndrome (MR, Retinitis pigmentosa, Polydactyly and hypogonadism)
3. Major illness without catch up growth - Malnutrition, IBDs, Heart/ Lung/ Renal disease, metabolic disease
4. Endocrine causes - Hypopituitarism, Hypothyroidism, Pseudohypoparathyroidism, Cushings syn, Growth hormone deficiency
(Disproportionate - skeletal dwarfism)
1. Truncal - TB spine, MPS (Type IV - Morquio’s syn)
2. Limb - Osteogenesis imperfecta (whole), Achondroplasia (proximal), Ellis Van Creveld Syndrome (distal)
3. Rickets

Question 2

Examination steps in Short Statue

Answer 2

1. Note shortness - confirm by measurement
2. Note body proportions
   Short limbs in skeletal dysplasia
   Hemihypertrophy in Russel- Silver Syndrome
3. Note if Obese - Cushing’s / Hypopituitarism/ Pseudohypoparathyroidism
4. Note any dysmorphic features (Cretin / Turner/ Pseudohypoparathyroidism)
5. Systemic Exam
   a. Features of rickets, pallor, cyanosis, wasting
   b. Goitre, Webbed neck
   c. UL- Short MCP, Wrist Swellings, Cubitus Valgus
   d. LL - Bowing in Rickets
   e. Chest - widely spaced nipples, Shield- like chest, Rickets rosary, Hyperinflation or deformity in chronic lung disease
   f. CVS - murmurs
   g. CNS - Visual field defects, fundi
   h. Ask to measure BP

Question 3

Normal Body Length

Answer 3

Newborn - 50 cm
6 month   - 67 cm
1 year       - 75 cm
2 year      - 85 cm
3 year      - 95 cm
4 year      - 100 cm
then 5.5 cm per year till puberty