chondrodysplasia Blomstrand type

An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.

Signs and symptoms

• Fetal ascites
• Preductal coarctation of the aorta
• Depressed nasal bridge
• Hydrops fetalis
• Narrow chest
• Short ribs
• Micrognathia
• Flared metaphysis
• Polyhydramnios
• Micromelia

Also known as: Blomstrand lethal chondrodysplasia