Table 3.

Skeletal, limb and brain anomalies in pathogenic CHD7 variant positive patients

Patient Number	Skeletal/limb anomaly	Brain anomaly
1	NA	None
2	NA	None
3	Thoracic kyphosis; cervical lordosis, failure of fusion of the posterior elements of C6	None
4	NA	Small splenium of the corpus callosum
5	Fused vertebrae, scoliosis	Chiari I malformation
6	Scoliosis	None
7	Neuromuscular scoliosis	None
8	None	NA
9	Kyphoscoliosis	Mild dysmorphic brain with prominent ventricular system including the fourth and third ventricles, small pons
10	Fused vertebrae, congenital scoliosis and kyphosis	Dysmorphic cerebellar structures wrapping around the lateral aspects of the brainstem
11	NA	Hypoplasia of the inferior cerebellar vermis and thin corpus callosum
12	Polysyndactyly of bilateral 5th and 6th toes	None
13	None	None
14	NA	Hypoplasia of the inferior cerebellar vermis
15	NA	Hypoplasia of the inferior cerebellar vermis
16	Bilateral hypoplasia of 5th finger phalanges	NA

NA, not assessed