Complex lethal osteochondrodysplasia

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Synonyms: Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type

A rare genetic primary bone dysplasia with decreased bone density characterized by fetal lethality severe hypomineralization of the entire skeleton barrel shaped thorax with short ribs multiple intrauterine fractures of ribs and long bones ascites pleural effusion and ventriculomegaly. Variable congenital developmental anomalies affecting the brain lungs and kidneys have also been associated.

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 Data version July 2024

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Complex lethal osteochondrodysplasia?

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