Heart defects-limb shortening syndrome
Heart defects-limb shortening syndrome
Definition
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.
Also known as heart defect and limb shortening syndrome — per MONDO