Figure 3.

Case 3. (A) Family pedigree (using INVITAE Family pedigree tool). M/M indicates a biallelic POC1A variant, M/W a heterozygous carrier. (B) Clinical features demonstrating the abnormal findings: (i) short stature; (ii) high forehead and frontal bossing; (iii) posterior low set ear; (iv) gynaecomastia; (v) Acanthosis nigricans; (vi) hypoplastic distal phalanges and nails; (vii) wide space between big and second toes. (C) Radiological abnormalities: (i) short third metacarpal; (ii) metatarsal bone; (iii) short femoral neck; (iv) empty sella turcia.