Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia

Authors: A Al Kaissi1; MB Ghachem1; N Nessib1; FB Chehida2; A Hammou2; K Kozlowski3

Source: Australasian Radiology, Volume 49, Number 1, February 2005 , pp. 57-62(6)

Publisher: Blackwell Publishing

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Abstract:

Summary

We report a boy with a unique, ‘new’ form of spondyloepimetaphyseal dysplasia. The conspicuous features of the spinal changes were the delay in ossification of the cervical spine and posterior elements of the thoraco-lumbar spine. The vertebral bodies were of abnormal shape but of normal size and well ossified. The hallmark of epiphyseal changes was markedly delayed ossification (bone age). The severely disturbed metaphyseal ossification was similar to Jansen metaphyseal dysplasia. This pattern of changes has not yet been described in spondyloepimetaphyseal dysplasia.

Keywords: bone age; epiphyses; Jansen metaphyseal dysplasia; spine; spondyloepimetaphyseal dysplasia

Document Type: Research article

DOI: 10.1111/j.1440-1673.2005.01395.x

Affiliations: 1: Paediatric Orthopaedics 2: Radiology, Children's Hospital, Tunis, Tunisia 3: Department of Radiology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia

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