Tall Statue

Question 1

Ddx of Tall Statue

Answer 1

1. Constitional familial tallness
2. Prenatal factors - IDM, Beckwith, Sotos Syn
3. Chromosomal - Klinefelters (Thin)
4. Simple Obesity
5. Endocrine causes - Gigantism, Precocious Puberty, Thyrotoxicosis (Fat)
6. Skeletal abnormalities - Marfans, homocysteinuria (Thin)
7. Hydrocephalus

Question 2

Steps to clinical examination of Tall Statue

Answer 2

1. Impression of tallness. Look at parents ht
2. Measure body proportions - US / LS ratio, arm span to ht. Marfans US/LS ratio 4/9
3. LL - Bowing / Knock knees, Pes Planus
4. 2nd Sexual characteristics - Axillary / pubic hair, Breast, genitalia
5. Chest - deformity, murmurs of AI/MI/MVP
6. Abdo - Organomegaly
7. Visual fields, slit lamp (lens dislocation)

Question 3

Steps to clinical examination of Tall Statue Steps to clinical examination of Tall Statue (3-5)

Answer 3

3. Dysmorphism
4. Assess mentality
5. UL - Arachnodactyly (Steinsberg and wrist signs), Hypermobility -Beightons score >4/9

Question 4

Sotos Syndrome

Answer 4

Tall >90 percentile - final adult ht might not be increased
Prominent forehead
large elongated face
high arched palate
Hypertelorism
Large ears and jaw, pointed chin
MR
Coarse facial features
Advanced bone age

Question 5

Beckwith Wiedemann Syndrome

Answer 5

Mild Microcephaly
Macroglossia
Ear lobe linear creases with pits on pina
Facial port wine stain
Exomphalos
Hemi-hypertrophy
Wilms tumor
islet cell hyperplasia and causing perinatal hypoglycaemia

Question 6

Klinefelter’s Syndrome

Answer 6

1/500, male
Increase with maternal age
mild MR
Tall and thin
long limbs
Gynaecomastia, breast Ca
Small testes, infertile
Antisocial