How to Cite this Article: Balasubramanian M, Sprigg A, Johnson DS. 2010. IMAGe syndrome: Case report with a previously unreported feature and review of published literature. Am J Med Genet Part A 152A:3138–3142.
IMAGe syndrome: Case report with a previously unreported feature and review of published literature†
Article first published online: 24 NOV 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 12, pages 3138–3142, December 2010
How to Cite
Balasubramanian, M., Sprigg, A. and Johnson, D. S. (2010), IMAGe syndrome: Case report with a previously unreported feature and review of published literature. Am. J. Med. Genet., 152A: 3138–3142. doi: 10.1002/ajmg.a.33716
- Issue published online: 24 NOV 2010
- Article first published online: 24 NOV 2010
- Manuscript Accepted: 28 JUL 2010
- Manuscript Received: 18 FEB 2010
- metaphyseal and epiphyseal dysplasia;
- congenital adrenal hypoplasia;
- genital anomalies;
- sensorineural hearing loss;
- growth hormone (GH) deficiency
IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. We report on a 7-year-old boy with IMAGe syndrome, who in addition to the features in the acronym also has bilateral sensorineural hearing loss which has not been reported in previously published cases of IMAGe syndrome. We discuss the clinical presentation in our patient and review the literature in this rare multisystem disorder. © 2010 Wiley-Liss, Inc.