supravalvular stenosis and cheerful child + ‘Elfin’ facies, transient hypercalcaemia
Williams Syndrome
Rockerbottom Feet
Trisomy 13 and 18
Cleft palate, retrognathia (severe overbite)
____ goes to the MCG
Pierre Robin sequence
Robin goes to the MCG - micrognathia, cleft palate, glossoptosis (tongue goes backwards)
neck webbing + low set ears. Affects both sexes. Pulmonary stenosis,
Noonan’s syndrome
aortic dissection, rupture, aortic coarctation
Turner syndrome
pulmonary stenosis
Liver problems
TOF
Butterfly vertebrae
Alagille Syndrome
long face, out turned ears, large testes
Fragile X
laughing paroxysms, uplifting arm
Angelman syndrome
elfin facies
Transient hypoglycaemia
supravalvular aortic stenosis
Williams syndrome
5 causes of Primary amenorrhoea
- Gonadal dysgenesis:
○ Turner syndrome - no menstruation no periods no fertility
○ Swyver syndrome - female with streak gonads - Androgen insensitivity
○ Complex range of disorders - look female (phenotypically), - Mullerian agenesis (missing uterus and varying vaginal hypoplasia)
○ Normal secondary sexual characteristics, ovulation occurs
○ Vagina may be shortened - Obstructive - vaginal atresia, imperforate hymen
- Hypothalamic - Kallman syndrome
5 stages of female puberty
- Growth spurt prior to menarche
- Thelarche
- Adrenarche - pubic than axillary
- Menarche 12.7 years
- Urogenital development
Secondary causes of amenorrhoea x 3
Outflow tract
- Asherman's syndrome
Gonadal causes
- Pregnancy and breastfeeding
- Menopause / premature menopause
- PCOSContraceptive hormones - esp depo provera
Endocrine causes
- Exercise eating disorders
- Prolactinaemia Sheehans syndrome
- Hypo/hyperthyroidismDefinition of short stature and poor growth
Short stature: height below 3rd percentile OR >2.5 standard deviation below mean
Poor growth - height velocity below 25th percentile for that population
causes of short stature x4
20% of preterm infants with very low birthweight or SGA infants
Hypothyroidism
Familial short stature
Constitutional delay in maturation
Definition of precocious puberty
When pubertal changes occur before 6 years and/or
menarche before 8 years of age
Causes of precocious puberty
Central causes: - Idoipathic - Intracranial tumours - craniopharyngioma - CNS lesions Peripheral causes - Gonadal - Mccune allbright Adrenals
Hypotonia, hypogonadism, poor feeding at birth - later on insatiable hunger
Prader Willi Syndrome
Newborn with micrognathia, cleft palate, glossoptosis?
Pierre Robin Sequence
Rockerbottom feet + omphalocoele + clenched hands -
Edward Syndrome
