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IMAGe syndrome: Case report with a previously unreported feature and review of published literature
Author(s) -
Balasubramanian Meena,
Sprigg Alan,
Johnson Diana S.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33716
Subject(s) - medicine , scoliosis , craniosynostosis , presentation (obstetrics) , pediatrics , hypoplasia , hypercalciuria , surgery , dermatology , anatomy , urinary system
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.