Holoprosencephaly anomaly with nasal and premaxillar agenesis (possibly autosomal recessive type).

Abstract

A one-day-old male infant with cleft lip and palate, microcephaly, hypotelorism, microphthalmia and absence of the nose is presented. The intermaxillar segment and nasal bone structure were not seen on radiological examination of the skull. Chromosome examination showed a 46, XY karyotype. On postmortem examination, the cerebrum was seen to be a single lobe. Olfactory nerves, corpus callosum and nasal formation, besides the septum were absent. The first and second ventricles were formed as a single ventricle. These findings were compatible with alobar holoprosencephaly.