Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.
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congenital heart defects, multiple types
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immunodeficiency-centromeric instability-facial anomalies syndrome
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hypercalcemia, infantile
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Ochoa syndrome
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autosomal recessive Ehlers-Danlos syndrome, vascular type
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heart septal defect
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