The second pair is a 4-year-old girl who presented with thoracic scoliosis, a T10-11 hemivertebra, and multilevel failure of segmentation in the lumbar spine whose identical sibling is unaffected.
We describe the use of a novel surgical procedure combining forward-shifting of anterior column of the wedge hemivertebra and circumferential fusion for treatment of congenital kyphosis secondary to a wedge hemivertebra in a case of a 13-year-old boy who showed a 49° angular kyphosis from T12 to L2 secondary to a wedge hemivertebra in L1.
We found a de novo heterozygous mutation in the N-terminal region of the GLI3 gene (c.332T>C, p.M111T) in a patient with esophageal atresia and hemivertebrae.
The CS patient with LFNG mutations had multiple vertebral malformations including hemivertebrae, butterfly vertebrae, and block vertebrae, and rib malformations.