Sensorineural hearing-loss in the Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder caused by a mutation in the 7-dehydrocholesterol reductase gene, which in turn provokes a defect in cholesterol biosynthesis. SLO is characterised by a specific physical, behavioural and developmental pattern, and the main clinical features include minor facial anomalies, multiple congenital anomalies, failure to thrive and mental retardation. This report describes a case in a newborn child with the typical clinical signs and symptoms of SLO syndrome, who was also affected by profound bilateral sensorineural deafness, and revises the literature suggesting that audiological examination of patients with SLO syndrome may be useful.