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- monosomy 45, XO
- 1 in 3000-5000
- skeletal growth arrest at 15 years
Cardia
- coarctation
- aortic stenosis
- idiopathic hypertension
- lymphangiectasia, generalized hydros
head and neck
- webbed neck
- high palate
- low irregular nuchal line
- nuchal cystic hygroma
endocrine
- thyromegaly
- pigmented nevi, keloid formation
- sexual infantilism
- primary amenorrhea
- absent secondary sex characteristics
- raised urinary gonadotrophins
chest
- wide spaced nipples
- shield shaped chest
- thin narrow ribs with pseudonotching
- thin lateral clavicle margins
abdomen
- horseshoe kidney
- streak ovaries
- prepubertal uterus
skull
- basilar impression, basal angle >140 degrees
- parietal thinning
- small sella
- hypertelorism
upper limb
- positive metacarpal sign: shortening of 3rd and 4th metacarpals
- positive carpal sign: scaphoid-lunate-triquetrum angle <117 degrees
- phalangeal preponderance: proximal and distal phalanx length > 4th metacarpal by >3 mm
- shortening of 2nd and 5th middle phalanx
- drumstick distal phalanges: slender shaft, large distal head
- insetting of epiphyses into base of adjacent metaphyses
- Madelung deformity: shortening of ulna, absence of ulnar styloid process
- cubitus valgus: radial tilt of articular surface of trochlea
lower limb
- tibia vara
- enlarged medial femoral condyle
- depression of medial tibial plateau
- exostosis from medial border of proximal tibial metaphysics
- shortening of 1st, 4th and 5th metatarsals
- pes cavus
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