Distal aphalangia, microcephaly and mental retardation

A 3-year old boy from Hatton presented with 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 fingers of the right hand and fourth and fifth of left hand were hypoplastic. All affected fingers showed some degree of camptodactyly and nails were absent. Both thumbs and, left index and middle fingers appeared normal (Figure 1). Xray of the hand revealed that the distal phalanges of the affected fingers were absent. The distal phalanx of the left index finger was hypoplastic. Other bones of the both hands were normal. Distal aphalangia, microcephaly and mental retardation