A peculiar form of neonatal adrenal insufficiency: the IMAGe association - About two new cases

We report two siblings with an IMAGe syndrome. IMAGe is a newly reported syndrome characterized by the association of intra-uterine growth retardation, metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. This clinical association has only been described in five unrelated males. These two additional patients (one brother and one sister) suggest an autosomal recessive inheritance although identification of new cases will give further insight into the pathogenesis. The radiologic signs of osteopenia and metaphyseal dysplasia can suggest this diagnosis in affected individuals.