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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease achondroplasia
Symptom C0009814|stenosis
Sentences 7
PubMedID- 21221226 The neurological signs of tl stenosis in achondroplasia patients are much more frequently reported and tend to manifest clinically in adulthood.12 there may be “wedge-shaped” deformities of one or more vertebral bodies, particularly between ti0 and l2 that exerts compression on the nervous structures and causes kyphosis of this segment of the spine particularly at conus and nerve roots.13 fortuna et al.
PubMedID- 21189897 achondroplasia is associated with spinal canal stenosis and, as proposed in a similar case report by ravenscroft et al.,3 a 30% reduction in the dose of intrathecal drugs should be carried out in parturients with achondroplasia.
PubMedID- 26435805 Congenital spinal stenosis is composed of stenosis caused by achondroplasia and idiopathic stenosis.
PubMedID- 24345918 The need for a screening programme for spinal stenosis in children with achondroplasia undergoing limb lengthening was identified in a tertiary limb reconstruction service.
PubMedID- 21286465 For a congenital cause, achondroplasia leads to severe stenosis due to a short pedicle, bulged facet joint, and lamina, and this becomes a cause of early spinal stenosis.
PubMedID- 24597928 The symptoms of lumbar spinal stenosis with achondroplasia usually occur earlier than those without achondroplasia.
PubMedID- 24140778 The authors report two cases of cervicomedullary decompression of foramen magnum (fm) stenosis in children with achondroplasia using intraoperative computed tomography (ict).

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