bone dysplasia, lethal Holmgren type
Findings
No curated finding names bone dysplasia, lethal Holmgren type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.
Definition from the Mondo Disease Ontology (MONDO:0008878), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: bone dysplasia, lethal Holmgren type
- Also called
- autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type