Case 7 is a 2-year-old girl, the first child of healthy non-consanguineous parents. She was born at 39 weeks of gestation by elective caesarean section. Birth weight was 3.5 kg (50th). There were feeding difficulties and poor weight gain in the first month of life. This resulted in hospital admission. Gastro-oesophageal reflux was diagnosed and the feeding difficulties resolved with gaviscon. At this time generalised hypotonia was noted. There was a history of mild gross motor delay; she first sat independently at 10 months and walked at 15 months. At the age of 2 years, she had begun to run. There were no concerns relating to fine motor skills. There was mild speech delay; at the age of 2 years, she was not producing two word phrases. She was physically well. On examination her head circumference was 47 cm (50th centile) and weight 10 kg (2nd centile). She had deep set eyes, full cheeks and thick lips. There was sparse scalp hair. She had bilateral fifth finger clinodactyly and hypoplasia of the nails of the fifth fingers and toes. CGH was reported as arr2p25.2(5166592–6400126)(hg19)x1. Only the SOX11 gene was deleted, and it was not possible to test parental samples.
Case 3 is a 14-year-old girl, the first child of healthy non-consanguineous parents. She was born at 37 weeks of gestation. Birth weight was 2840 g (9th centile) and head circumference 33 cm (2nd centile). She had a weak suck and difficulty feeding in the neonatal period. She first walked at the age of 20 months. Her fine motor skills were impaired. She had no speech delay. At 14 years old, her height was 158 cm (50th) and head circumference was 52 cm (<2nd). She was dysmorphic with a high forehead, narrow palpebral fissures, a smooth philtrum, micrognathia and a high arched palate. A scoliosis, inverted nipples, bilateral fifth finger clinodactyly and 2–3 toe syndactyly were noted. CGH was reported as arr 2p25(5838893–7023548)(hg 19)x1. The deletion included SOX11, RSAD2 and CMPK2 genes. The deletion was not found in the mother. The father was not available for testing.