Ocular coloboma and foetal valproate syndrome: four further cases and a hypothesis for aetiology.

摘要

This child, a female, was initially seen at 7 months of age. She was the second child of unrelated parents. Her mother had epilepsy but both parents were otherwise in good health. She was referred for assessment because of mild delay in gross motor development. During pregnancy her mother took 1000 mg VPA daily and was seizure free. A previous pregnancy on a dose of 500 mg VPA daily had resulted in the birth of a healthy boy. No abnormalities were observed on antenatal scans and our patient was born at term weighing 3.83 kg (50-75th centile). On examination, she had a broad forehead, a broad flat nasal bridge, a slightly short nose with a flattened tip, a thin upper lip, downturned corners of the mouth, which was small with an everted lower lip and a slightly small jaw. Her features were considered to be consistent with VPA embryopathy. She was also observed to have had a left isolated iris and choroidoretinal coloboma; however, her vision seemed unaffected by this. Seen again at 19 months of age, she had begun walking but was delayed in her language development.