Distal aphalangia, microcephaly and mental retardation

Abstract

generalised convulsions. He was the third child born to consanguineous parents. The antenatal and perinatal period of this child had been normal. At 3 months of age he developed generalised convulsions and was treated with phenobarbitone at the Nawalapitiya Base Hospital. However, subtle seizures persisted at a frequency of about 1 or 2 seizures a month. At about 15 months of age the seizure frequency increased. He also had global development delay. On examination he had dysmorphic features. The occipito-frontal circumference was 46 cm (<3rd centile, [1], length of child 89 cm (< 3rd centile) and weight 13.5 kg (between 10th and 25th centile). The dysmorphic features were mainly confined to hands and feet. The distal phalanges of all the four finger