Tall Stature
Good... I'm....
Washed
Ive been asked...
What year are you in (reduced intellect Beckwith-Wiedemann, Sotos syndrome, homocystinuria)
Position Pain
Exposure
Observation
Equipment: Glasses (near sighted; marinas, homocystinuria)
Well (acynotic without work of breathing)
Growth, proportion, nutrition, Charts and self TANNER
Obs
Diagnostic facies/habitus
Measurements
Ht, velocity, Wt, HC
LS
US (Ht - LS)
US:LS ratio: 1.7 at birth, 1.3 at 3y, 1.0 at 8y, 0.9 at 18y
HC
Wt
Request charts with serial measures
Birth centiles (B-W and Sotos LGA)
Mid parental height (average of parents +/- 6.5cm for sex (+/- 6cm for girl/7.5cm for boy for range)
Family puberty (constitutional precocious puberty)
Manoeuvres
Palms and feet together, shoulders to wall for asymmetry
genu valgum (knock knee) homocystinuria)
genu recurvatum (knee bent backwards) Marfan syndrome
pes planus (flat foot) Marfan syndrome
Touch toes
Scoliosis: Marfanoids and Sotos
Kyphosis: with scoliosis as above + pituitary gigantism (GH excess pre fusion) / acromegaly (GH excess post epiphyseal fusion)
Beighton score (increased connective tissue disorders ?Marfans, decreased ?homocystinuria)
Arachnodactyly (Marfan's)
Hyperthyroidism
Examination
Table 7.7 down
Abdo
Ix
IGF-1 (not GH as screen as variable)
- Pituitary gigantism (Pituitary making to much GH, called Acromegaly in adults presenting after fusion of growth plates)
GH suppression test to confirm (GH pre and serially post Glucose load, failure to suppress suggests autonomous pit secretion of GH)
MRI ? pituitary adenoma
Washed
Ive been asked...
What year are you in (reduced intellect Beckwith-Wiedemann, Sotos syndrome, homocystinuria)
Position Pain
Exposure
Observation
Equipment: Glasses (near sighted; marinas, homocystinuria)
Well (acynotic without work of breathing)
Growth, proportion, nutrition, Charts and self TANNER
Obs
Diagnostic facies/habitus
- Marfanoid (Marfans, MEN2b, homocystinuria)
- Eunuchoid (Klinefelter, Kallmann syndromes)
- Asymmetric: NF1, B-W, Proteus or McCune–Albright
- pectus carinatum/excavatum (e.g. in Marfan syndrome or homocystinuria)
- scoliosis (e.g. Marfan syndrome, homocystinuria, NF type 1, Proteus syndrome, Sotos syndrome)
- hemiplegia in homocystinuria (thrombotic CVA)
- Acne (precocious puberty)
- café-au-lait spots: NF1, Proteus, McCune–Albright (large sacral)
- subcutaneous tumours: Proteus syndrome (lipomata, haemangiomata and lymphangiomata)
- Epidermal naevus: Proteus syndrome
Measurements
Ht, velocity, Wt, HC
LS
US (Ht - LS)
US:LS ratio: 1.7 at birth, 1.3 at 3y, 1.0 at 8y, 0.9 at 18y
- US:LS decreased = long lower limbs (e.g. Marfanoid body habitus, eunuchoid body habitus)
- US:LS normal: familial tall stature or pituitary gigantism
- positive = long arm span:
- with low US:LS
- long legs: Marfanoid or eunuchoid patients
- short trunk: scoliosis (e.g. Sotos) or kyphosis (e.g. pituitary gigantism)
- with low US:LS
HC
Wt
Request charts with serial measures
Birth centiles (B-W and Sotos LGA)
Mid parental height (average of parents +/- 6.5cm for sex (+/- 6cm for girl/7.5cm for boy for range)
Family puberty (constitutional precocious puberty)
Manoeuvres
Palms and feet together, shoulders to wall for asymmetry
- hemihypertrophy: BWS, McC–A, NF1
- unilateral growth arrest: homocystinuria CVA
genu valgum (knock knee) homocystinuria)
genu recurvatum (knee bent backwards) Marfan syndrome
pes planus (flat foot) Marfan syndrome
Touch toes
Scoliosis: Marfanoids and Sotos
Kyphosis: with scoliosis as above + pituitary gigantism (GH excess pre fusion) / acromegaly (GH excess post epiphyseal fusion)
Beighton score (increased connective tissue disorders ?Marfans, decreased ?homocystinuria)
- palms flat on the floor
- hyperextension of knees greater than or equal to 10 degrees (genu recurvatum)
- apposing thumb to forearm with wrist flexed
- passive hyperextension of the fifth finger over 90 degrees (Gorling’s sign)
- hyperextension of the elbows >10 degrees (Marfan paradoxic decrease in elbow extension < 170 degrees)
Arachnodactyly (Marfan's)
- Steinberg sign: whole distal phalanx of the thumb beyond the ulnar border of the hand when apposed across the palm
- Walker–Murdoch sign: overlapping of the distal phalanx of the thumb with the distal phalanx of the little finger when encircling the opposite wrist
Hyperthyroidism
- arms out straight in front with the fingers spread apart and check for tremor
Examination
Table 7.7 down
Abdo
- Gastrostomy (LDS not Marfan's)
Ix
IGF-1 (not GH as screen as variable)
- Pituitary gigantism (Pituitary making to much GH, called Acromegaly in adults presenting after fusion of growth plates)
GH suppression test to confirm (GH pre and serially post Glucose load, failure to suppress suggests autonomous pit secretion of GH)
MRI ? pituitary adenoma