Alobar Holoprosencephaly with Ectrodactyly, Oesophageal Atresia and Other Rare Anomalies: A Case Report

Synophthalmia with severe holoprosencephaly is a rare congenital anomaly, with a prevalence of approximately 1 in 100,000 total births and a female preponderance. It is characterised by a single midline orbit with two fused eyeballs, with or without a proboscis, along with absence of the nose and philtrum. The authors report a case of a 38-week-old male stillborn foetus, delivered vaginally to a 24-year-old healthy, non diabetic, second-gravida mother. On gross examination, the foetus exhibited low-set ears, a single midline orbit with two fused eyes, a proboscis above the orbit, absence of the nose and philtrum, microstomia, micrognathia, peripheral cyanosis and bilateral lobster foot. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) revealed a single orbit with ill-defined sinuses and alobar holoprosencephaly, characterised by absence of the corpus callosum, septum pellucidum, interhemispheric fissure and uncleaved thalami. Internal examination revealed a type I single umbilical artery, type A oesophageal atresia and valvular pulmonary stenosis. The presence of more than three associated anomalies in the present case underscores the rarity of this association.