metatropic dysplasia

A severe, extremely rare (80 cases in the world literature) autosomal dominant or recessive spondyloepimetaphyseal dysplasia, characterised in infancy by a long trunk and short extremities, and which in childhood (due to progressive kyphoscoliosis) is characterised by shortening of the trunk and lengthening of the extremities. The face is mildly dysmorphic at birth, normalising later in life.
Imaging
Marked platyspondyly, widened metaphyses, small epiphyses and a characteristic shape of the iliac bone (a notch between the shortened iliac body and prominent crescent-shaped iliac wing, fancifully likened to a halberd).

单词	metatropic dysplasia
释义	metatropic dysplasia metatropic dysplasia A severe, extremely rare (80 cases in the world literature) autosomal dominant or recessive spondyloepimetaphyseal dysplasia, characterised in infancy by a long trunk and short extremities, and which in childhood (due to progressive kyphoscoliosis) is characterised by shortening of the trunk and lengthening of the extremities. The face is mildly dysmorphic at birth, normalising later in life. Imaging Marked platyspondyly, widened metaphyses, small epiphyses and a characteristic shape of the iliac bone (a notch between the shortened iliac body and prominent crescent-shaped iliac wing, fancifully likened to a halberd).
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