Greenberg dysplasia

An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and

An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12.

Signs and symptoms

• Abnormal lung lobation
• Thoracic hypoplasia
• Hypoplasia of the calcaneus
• Short metacarpal
• Severe short-limb dwarfism
• 11 pairs of ribs
• Cystic hygroma
• Retrognathia
• Long clavicle
• Anterior rib punctate calcifications

Also known as: GRBGD; Greenberg skeletal dysplasia; HEM dysplasia; Skeletal dysplasia, Greenberg type; autosomal recessive lethal chondrodystrophy with congenital hydrops