Main Clinical Features
Skeletal abnormalities: Multiple vertebral body anomalies involving the thoracic spine, fused T4–T5 on the right side, and bifid T6 and T8 and fused T11–T12 on the left side. In addition, mild dextrocurve convexity involving the thoracolumbar spine was observed. The Cobb angle from the superior endplate of T12 to the inferior endplate of L1 was 21. There were fused ribs at the level of the right third and fourth ribs.
Inheritance
Autosomal recessive (biallelic variants in DLL1).
Parents are typically asymptomatic carriers.
DLL1