GTK Mok, YWY Chu, YT Tan, BHY Chung

Our patient was born at 32 weeks of gestation with an antenatal history of oligohydramnios. His parents are non-consanguineous and of Chinese origin. His father had left retinal detachment at 8 years old; otherwise his family history was unremarkable. His birth weight was 1.895 kg. Soon after birth, he was found to have episodes of oxygen desaturation. Examination reveals a small jaw and cleft palate, requiring Continuous Positive Airway Pressure support in Special Care Baby Unit for a few weeks and subsequently a surgical repair of the cleft palate at 20 months of age. He developed high myopia (-5.25 dioptre in both eyes) in early childhood and his hearing was normal. His height was 50th-75th percentile at 4 years of age. Photographs taken at various ages are shown in Figure 1.

Figure 1 Photographs at various ages (from infancy to 4 years old). (Parental consent obtained for the clinical photo)

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