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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Metatropic dysplasia (metatropic-changing hypertrophic achondroplasia) was described in 1966 by Maroteaux et al.
2) In addition, the observation of an overlap between the autosomal recessive non-lethal form and the non-lethal autosomal dominant form, the rarity of sibship recurrences and the observation of vertical transmissions of metatropic dysplasia in the literature argue in favor of an autosomal dominant mode of inheritance.
Radiographic skeletal survey revealed characteristic vertebra plana (dense wafer thin), dumbbell shaped long bones, kyphosis, halberd shaped pelvis, squared calcaneus and coccygeal appendage consistent with the diagnosis of metatropic dysplasia.
5) Recent research has pointed out that mutations in TRPV4, a calcium permeable ion channel produce a phenotypic spectrum of skeletal dysplasias from the mild autosomal-dominant brachyolmia to SMDK to autosomal dominant metatropic dysplasia, suggesting that these disorders should be grouped into a new bone dysplasia family.
Understanding the clinical spectrum of metatropic dysplasia, careful patient selection and appropriate intervention has great potential for functional improvement and hence, leading an independent social life for these challenging cases.
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Four-year old Jack Zembsch suffers from Metatropic Dysplasia (MD), a rare and dangerous form of dwarfism characterized by soft vertebrae and a badly deformed spine.