schneckenbecken dysplasia

An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p

An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.

Signs and symptoms

• Thoracic hypoplasia
• Nonimmune hydrops fetalis
• Snail-like ilia
• Narrow vertebral interpedicular distance
• Lateral clavicle hook
• Narrow chest
• Short long bone
• Limb undergrowth
• Ovoid vertebral bodies
• Midface retrusion