Figure 1: a) Child at two years showing prominent forehead, depressed nose, long philtrum, thin lips. b) Radiograph showing mild dorsolumbar scoliosis, D 8-11-butterfly vertebrae, and short left femur as compared to the right. c) Radiograph of bilateral knees after surgery. d) Radiograph showing butterfly vertebra e) Radiograph showing bilateral hip dysplasia. f) Ideogram of chromosome 9 with region of homozygosity as per ISCN to be arr [GRCh37] 9q21.2q34.11 (80854608_131969556) ×2 hmz and the red arrow marking the band 9q32 where COL27A1 gene is located
![Figure 1: a) Child at two years showing prominent forehead, depressed nose, long philtrum, thin lips. b) Radiograph showing mild dorsolumbar scoliosis, D 8-11-butterfly vertebrae, and short left femur as compared to the right. c) Radiograph of bilateral knees after surgery. d) Radiograph showing butterfly vertebra e) Radiograph showing bilateral hip dysplasia. f) Ideogram of chromosome 9 with region of homozygosity as per ISCN to be arr [GRCh37] 9q21.2q34.11 (80854608_131969556) ×2 hmz and the red arrow marking the band 9q32 where COL27A1 gene is located](articles/2023/69/2/images/jpgm_2023_69_2_99_367684_f1.jpg)