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.
Adactylia and limb deficiencies are major congenital malformations can be resulted from a long list of etiological factors, in our department the vast majority of these disorders are genetically determined, and only a small fraction of it proved to be sporadic. We report on a-9-months old male child with Aglossia-Adactylia sequence associated with Moebius syndrome involvement, which in our patient is manifesting itself by left facial nerve and bilateral abducens nerve palsies, total absent of the tongue and absent digits of hands and feet respectively.
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