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Metaphyseal Dysplasias (hyperplasias)

Metaphyseal Dysplasias (hyperplasias)

Metaphyseal Dysplasia (Pyles dysplasia)

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

Cranio-metaphyseal dysplasia

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

Metaphyseal chondrodysplasia

  • 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

Jansen Type

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

Schmid Type

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

Spahr-Hartmann Type

  • Inheritance :Autosomal recessive
  • Clinical Features: Severe bow legs is the principle feature

McKusick Type

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
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