Fig. 1

Clinical features of patient. (A) Short stature. (B) Facial dysmorphism including flat face. (C) Hypomineralised amelogenesis imperfecta. (D) CT of skull showing flat face and amelogenesis imperfecta. (E) Brachydactyly of patient’s hands. (F) Mild flat feet. (G) CT of hands showed brachydactyly and contracture of the little finger joint. (H) Optical Coherence Tomography of patient showed light optic disc color in both eyes, increased the cup-to-disc ratio, optic nerve atrophy and thin optic nerve atrophy. (I) Moderate hearing impairment. (J) As type tympanogram of patient at 226 Hz of both ears. (K) CT images of patient before surgery when 3 years old. Obvious scoliosis was observed at thoracic and lumbar vertebrae. (L) The X-ray images of patient after her first single-side growth rod surgery. Pedicle screws were fixed at T9, T10, L3 and L4. (M) The X-ray images of patient after surgical replacement of the single-side growth rod by dual growth rod at the age of 10.2 years. Screws were fixed at T1, T2, T3, T5, T8, T11, T12, L2 and L3 at the left side and T1, T2, T4, T5, T10, T12, L2 and L3 at the right side. (N) X-ray images of patient after her final fusion surgery. Old screws were removed and a new set of screws was fixed at previous vertebral bodies. Abbreviations, R, right; L, left; OD, Oculus Dexter; OS, Oculus Sinister; ILM, internal limiting membrane; RNFL, retinal nerve fiber layer. T, thoracic; L, lumbar