bone dysplasia, lethal Holmgren type
http://purl.obolibrary.org/obo/MONDO_0008878
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. [ Orphanet:1842 ]
Term info
- SCTID:732249002 (MONDO:equivalentTo)
- MESH:C565896 (MONDO:equivalentTo)
- GARD:0000922 (MONDO:equivalentTo)
- Orphanet:1842 (OMIM:211120)
- OMIM:211120 (Orphanet:1842/e)
- UMLS:C1859407 (Orphanet:1842)
gard_rare, ordo_malformation_syndrome
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.
http://purl.obolibrary.org/obo/Orphanet_1842, http://linkedlifedata.com/resource/umls/id/C1859407, https://omim.org/entry/211120, http://identifiers.org/snomedct/732249002, http://identifiers.org/mesh/C565896
autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type
bone dysplasia lethal Holmgren type, bone dysplasia, lethal, Holmgren type
MONDO:0008878
https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type