Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

We report two sibs with features overlapping those of orofaciodigital syndr ome type VI (Varadi syndrome). Both presented at birth with oculomotor abno rmalities, dysmorphic facial features, and dysgenesis of the cerebellar ver mis. There were minimal oral manifestations (high arched palate) in both of them and one had postaxial polydactyly of both hands and one foot. In addi tion, there was evidence of aplasia of the pituitary gland on MRI scan in b oth of them with evidence of hypopituitarism. Both responded well to hormon e replacement therapy with improvement in their linear growth and mental ab ility. These cases may represent a new autosomal recessive midline defect s yndrome with features overlapping OFDS VI. Alternatively the features in th ese children could represent variability within OFDS VI.