bone dysplasia, lethal Holmgren type
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.
MONDO:0005516
osteochondrodysplasia
is_a
autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type
exact
bone dysplasia lethal Holmgren type
related