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Bone dysplasia, lethal Holmgren 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.
ORPHA:1842Classification level: Disorder
A summary on this disease is available in Deutsch (2003) Español (2016) Français (2016) Italiano (2016) Nederlands (2016) Polski ()
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