Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?

Abstract

We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), congenital adrenal hypoplasia, aniridia, dysmorphic facial features, intrauterine growth retardation, and minor skeletal abnormalities. This combination of abnormalities is yet to be recognized in the medical literature. As such, we propose that our patients represent either a new dysmorphic syndrome or a thus far unrecognized variation of a known syndrome, such as IMAGe syndrome. The sibling recurrence suggests autosomal recessive or X-linked patterns of inheritance.