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Spondylometaphyseal dysplasia with corneal dystrophy
Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) is characterized by short stature due to short proximal and distal long bones. Affected individuals also exhibit narrow thorax with pulmonary hypoplasia and respiratory failure, as well as corneal dystrophy. Severe developmental delay has been observed (Ben-Salem et al., 2018). [from OMIM]
Lumbar platyspondyly
A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the lumbar spine. [from HPO]
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