Thoracomelic dysplasia

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Thoracomelic dysplasia

Synonyms: Rivera-Perez-Salas syndrome | Thoracolimb dysplasia, Rivera type

A rare primary bone dysplasia disorder characterized by a bell-shaped thorax disproportionate short stature pelvic hypoplasia dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.

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 March 2024

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Thoracomelic dysplasia?

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Clinical Trials

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