Short Stature
DDx
Constitutional delay
Familial short stature
Chromosomal (Turners, Downs
Syndromal (Russell-Silver, Kallman and below)
Intrauterine (SGA, TORCH, FAS)
Nutritional (neglect, aversion)
Chronic disease
Skeletal (dysplasia, OI, scoliosis)
Endocrine (T1DM, GH insensitive, and below)
Tumour (Craniopharyngioma)
Iatrogenic (steroids, radiation)
Short and obese
Endocrine
IWS
IPEP
Equipment
Well (acynotic without work of breathing)
Growth, proportion (skeletal dysplasia), nutrition, Charts and self TANNER
Obs
Diagnostic facies:
Measurements
Ht, velocity
LS
US (Ht - LS)
US:LS ratio: 1.7 at birth, 1.3 at 3y, 1.0 at 8y, 0.9 at 18y
Wt
Request charts with serial measures
Birth centiles (chromosomal, IUGR)
Mid parental height (average of parents +/- 6.5cm for sex (+/- 6cm for girl/7.5cm for boy for range)
Family puberty (constitutional delayed puberty)
Manoeuvres
Pulse
Blood pressure
Thyroid
Chest deformity
Heart
Lung fields
Abdomen
UA: T1DM/CKD
Stool: RC, WC, faecal fat (IBD, Coeliac, CF)
Dx
delayed puberty: constitutional delayed puberty, pituitary disorders and chronic diseases
normal puberty: familial short stature
precocious puberty > PP short
Ix
Bone age (20% difference if significance ie bone age <80% or >120% of actual age (will be 12-24mo difference for cut off depending on age) > calculate ht centile on bone age to get an estimate of predicted ht)
Karyotype (Turners)
CGH microarray
TFT (hypo), EUC (CKD), Coeliac serology,
IGF-1, IGFBP-3
GH normal IGF1 low: ?Laron syndrome (GH insensitivity)
GH provocation (clonidine, arginine or glucagon) if poor height velocity, if GH remains low > deficiency
Do second fine detail run from table 7.2 down
Constitutional delay
Familial short stature
Chromosomal (Turners, Downs
Syndromal (Russell-Silver, Kallman and below)
Intrauterine (SGA, TORCH, FAS)
Nutritional (neglect, aversion)
Chronic disease
Skeletal (dysplasia, OI, scoliosis)
Endocrine (T1DM, GH insensitive, and below)
Tumour (Craniopharyngioma)
Iatrogenic (steroids, radiation)
Short and obese
Endocrine
- hypothyroidism
- hypopitituitarism
- GH deficiency
- Cushings
- pseudohypoparathyroidism
- Prader-willi
- Bardet-Biedl
- Alström
- Down
- Fröhlich
IWS
IPEP
Equipment
Well (acynotic without work of breathing)
Growth, proportion (skeletal dysplasia), nutrition, Charts and self TANNER
Obs
Diagnostic facies:
- Webbed neck Turners (in girl), Noonans (in boy or girl)
- Elfin (Williams)
Measurements
Ht, velocity
LS
US (Ht - LS)
US:LS ratio: 1.7 at birth, 1.3 at 3y, 1.0 at 8y, 0.9 at 18y
- high US:LS > short lower limbs: skeletal dysplasias, hypothyroidism
- low US:LS > short trunk: scoliosis, spondylodysplasia, osteogenesis imperfecta or short neck (Klippel–Feil sequence)
- positive = long arm span: short neck, trunk or legs.
- with low US:LS > short neck or trunk, normal limbs
- negative = short arm span: skeletal dysplasias
- with high US:LS
- normal limbs, long trunk
- short limbs, normal trunk
- with low or normal US:LS ratio
- short trunk, short limbs.
- with high US:LS
Wt
Request charts with serial measures
Birth centiles (chromosomal, IUGR)
Mid parental height (average of parents +/- 6.5cm for sex (+/- 6cm for girl/7.5cm for boy for range)
Family puberty (constitutional delayed puberty)
Manoeuvres
- Palms together shoulder on wall (asymmetry in Russell-Silver)
- Carry angle (Noonans, Turners)
- Thumb to shoulders
- overshoot = proximal segment shortening (eg A/hypochondroplasia)
- undershoot = middle (eg mesomelic dysplasia) or distal segment shortening (Asphyxiating thoracic dysplasia) or bending (camptomelic dysplasia)
- Palms up
- Tips (T1DM)
- Clubbing (CF, CHD , CLD)
- Clinodactyly (curved): Russell-Silver
- Syndactyly (webbed): with craniosynostosis > Aperts
- short fingers (hypochondroplasia)
- space between 3rd and 4th fingers (Trident) > Achondroplasia
- Simian crease (T21)
- Thumb or radial anomaly (Fanconi Anaemia)
- Palms down
- nails hyperconvex (Turners)
- Archibald's "knuckle knuckle dimple dimple" sign: pseudohypoparathyroidism (PTH high, with PTH resistance > low Ca high PO4), Turners
- from side
- low hair line (turners)
- flat occiput (T21)
- prominent forehead (achondroplasia)
- Proptosis (craniosynostosis syndromes)
- Prognathia (achondroplasia)
- Micrognatia (Pierre robin)
- kyphosis, lordosis (achondroplasia)
- crouched (diastrophic dysplasia)
- Finger position on thigh
- from back
- scoliosis (skeletal dysplasia, noonans, T21...)
Pulse
Blood pressure
Thyroid
Chest deformity
Heart
Lung fields
Abdomen
- Genitalia for Tanner and DSD
UA: T1DM/CKD
Stool: RC, WC, faecal fat (IBD, Coeliac, CF)
Dx
delayed puberty: constitutional delayed puberty, pituitary disorders and chronic diseases
normal puberty: familial short stature
precocious puberty > PP short
Ix
Bone age (20% difference if significance ie bone age <80% or >120% of actual age (will be 12-24mo difference for cut off depending on age) > calculate ht centile on bone age to get an estimate of predicted ht)
Karyotype (Turners)
CGH microarray
TFT (hypo), EUC (CKD), Coeliac serology,
IGF-1, IGFBP-3
GH normal IGF1 low: ?Laron syndrome (GH insensitivity)
GH provocation (clonidine, arginine or glucagon) if poor height velocity, if GH remains low > deficiency
Do second fine detail run from table 7.2 down