METATROPIC DYSPLASIA
 
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METATROPIC DYSPLASIA

 

DEFINITION:

A non-lethal type of congenital dwarfism characterized by typical skeletal dysplasias (micromelia), joint changes, and a tail-like appendage.

EPIDEMIOLOGY:

  • incidence: rare
  • age of onset:
    • newborn (vertebral changes on x-ray)
  • risk factors:
    • familial - autosomal dominant and autosomal recessive forms
      • chrom.#: ?
      • gene: ?
    • M = F

CLINICAL FEATURES:

1. Musculoskeletal Manifestations

1. Limbs

  • micromelia
  • joints - bulbous (enlarged)
    • contracted with limited range of motion
  • hands - hyperextensible fingers

2. Spine

  • tail-like skin fold overlying the sacrum
  • progressive kyphoscoliosis (severe)
  • slow growth rate (spine < limbs), "turnabout proportions"
  • short stature (dwarf)

INVESTIGATIONS:

1. Imaging Studies

1. Skeletal X-Rays

  • limbs - as above, metaphyses barbell-like (flared), irregular ossification of the epiphyses
  • thorax - short ribs with flared and cupped costochondral junctions, long and narrow
  • spine - flattened vertebral bodies, large intervertebral spaces
  • pelvis - "battle-axe" appearance

MANAGEMENT:

1. Supportive

  • management of complications
  • joint contractures, kyphoscoliosis

2. Prognosis

  • pulmonary problems may increase infant mortality
  • progressive kyphoscoliosis may become life-threatening
  • adult height: 110-120 cm

 

 

 

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