Fig. 2

Clinical features of case II.1 carrying the ANKRD11 mutation associated to the KBG syndrome. a and b: intra and extra oral views at 8 and 10 years, respectively. Due to the dental apparatus (an expander to enlarge the palate positioned at the age of about 8 and a half years), it was not possible to confirm the patient’s sub-mucosal palate with magnetic resonance imaging. The clinical suspicion is based on the dentist’s assessment of the palate. c: X-rays view of the cervical spine presenting invasion of physiological cervical lordosis. d and e: Picture and X-rays of patient hands demonstrating shortening of the distal phalanx of the 5th finger, clinodactyly of the 2th and 5th with a slight shortened tubular bones III and IV. f: Computed tomography and magnetic resonance imaging of the sacroiliac joints that allowed the display of concealed spina bifida at L5/S1. g: Pedigree of the family under study. Mutation status of the ANKRD11 gene is indicated beneath symbols for each subject. Sanger sequencing of cases II.1 and II.2: arrow indicates the presence of the c.5145C > G: p.(Tyr1745*) mutation