IMAGe syndrome: Case report with a previously unreported feature and review of published literature.
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.
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. meena.balasubramanian@nhs.net
Meena
M
Balasubramanian
Alan
A
Sprigg
Diana S
DS
Johnson
D000015:Abnormalities, Multiple / Q000235:genetics; D000309:Adrenal Insufficiency / Q000151:congenital*; D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002972:Cleft Palate / Q000150:complications / Q000235:genetics; D005317:Fetal Growth Retardation / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D012720:Severity of Illness Index; D013577:Syndrome