✦ LIBER ✦

IMAGe syndrome: Case report with a previously unreported feature and review of published literature

✍ Scribed by Meena Balasubramanian; Alan Sprigg; Diana S. Johnson

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 117 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33716

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✦ Synopsis

Abstract

IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by __i__ntrauterine growth restriction, __m__etaphyseal dysplasia, congenital __a__drenal hypoplasia, and __g__enital 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.

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