Characterised by thickening of the medial end of the clavicles, pubis and ischium
Inheritance
Autosomal recessive
Clinical Features
- No clinical implication, except incidence of genu valgum
- Thickening medial end of clavicles, pubis and ischium
- Some sclerosis of the skull vault may be evident
- Marked Erlenmeyer flask flaring of long bone, esp. femurs, proximal tibias and fibula
- May develop LLD or stress fracture due to increased bone fragility
Treatment
Nothing specific, but may require corrective osteotomy
Prognosis
Normal life expectancy
Inheritance
- Autosomal dominant (common mild form)
- Autosomal recessive (uncommon severe form)
Incidence
Age at diagnosis for severe form is infancy
Clinical Features
- Severe form
- Distortion or jaw and facies secondary to sclerotic thickening of the skull
- Metaphyseal Erlenmeyer's flask deformity
- Mal-occlusion of teeth
- Cranial nerve palsies
- Characterised by dwarfing, and improper mineralisation of the shafts of bones in the metaphyseal region
- May be associated with pancreatic endocrine deficiency, intestinal malabsorption, Hirschsprings disease, and chronic lymphopenia and neurtopenia
Inheritance
Autosomal dominant
Incidence
- Less than 0.1 / million
- Age at diagnosis : severe short stature evident at birth
Clinical Features
- Wide spaced exophthalmic eyes
- Dwarfing
- Short limbs (most marked in distal segments)
- Angular deformity of metaphyseal-diaphseal junction
- Delayed appearance of epiphysis
X-Rays
- Bulbous expansion of the metaphysis
- Metaphysis is irregular, mottled and fragmented
Inheritance
Autosomal dominant
Incidence
- More common and less severe than Jansen type
- Age at diagnosis 3-5 years
Clinical Features
- Moderate shortness of stature
- Skeletal changes develop after beginning weight bearing
- Growth of long bones is inhibited
- Coxa vara
- Tendency to get SFCE
- Genu varum and waddling gait
- The epiphysis is normal
X-Rays
- Splaying, irregularity and cupping of the metaphysis (similar to rickets)
- Femoral neck shaft angle is decreased
Treatment
- Nil specific
- Corrective osteotomies for deformities
- Inheritance :Autosomal recessive
- Clinical Features: Severe bow legs is the principle feature
Inheritance
Autosomal dominant
Clinical Features
- Sparse, short, brittle hair
- Excessive joint laxity
- Ankle deformity secondary to unusual length of fibula (hind-foot in varus, mid-foot and forefoot in valgus)
- Dwarfing may be marked and the epiphyses are normal
X-Rays
- Lateral spine vertebrae are oval persisting into childhood
- Resembles the Schmid Type
