IMAGe syndrome in the era of genetic testing: clues to diagnosis

Abstract

Abstract IMAGe syndrome (Intrauterine growth restriction (IUGR), Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) is a rare, multisystem disorder caused by mutations in the PCNA-binding domain of CDKN1C. Reported here is a male infant diagnosed with IMAGe syndrome by CDKN1C sequencing at 3 months of age. He presented with IUGR, primary adrenal insufficiency with adrenal crisis in the neonatal period, dysmorphic facies, and bilateral cryptorchidism. Interestingly, he demonstrates several additional clinical findings not previously reported with IMAGe syndrome including congenital hypothyroidism, recurrent bacterial infections, and severe eczema.