Heart defects-limb shortening syndrome

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A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations such as atrial and ventricular septal defects right ventricular hypoplasia and valve defects). There have been no further descriptions in the literature since 1990.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Heart defects-limb shortening syndrome?

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