Bone dysplasia, lethal Holmgren type

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Synonyms: Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type

A rare lethal bone dysplasia characterized at birth by low birth weight a rhizomelic dwarfism bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome or a recessive Larsen syndrome. There has been no further description 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 Data version June 2024

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