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Heart defects-limb shortening syndrome
rareHeart 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.
- Identifiers
- MONDO:0008917 OMIM:212135Orphanet:1354
- Part of
- Autosomal recessive diseaseCardiogenetic diseaseCongenital heart diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- heart defect and limb shortening syndrome · heart defects and limb shortening
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