IMAGE syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

IMAGe is a complex syndrome involving dysmorphic features; disorders of growth, gonadal, and adrenal function; and skeletal abnormalities. It is a multisystem disorder with a broad phenotype, which, if unrecognized, may result in major and possibly life-threatening complications.

Pathophysiology

IMAGe syndrome is characterized by^[1]

Intrauterine growth restriction
Metaphyseal dysplasia
Adrenal hypoplasia congenita
Genital abnormalities

Differentiating IMAGe syndrome from other Diseases

IMAGe syndrome should be differentiated from the following diseases:

Russell-Silver syndrome (RSS)
Isolated growth hormone (GH) deficiency

Diagnosis

Physical Examination

Extremities

Skeletal abnormalities.

References

↑ Pedreira CC, Savarirayan R, Zacharin MR (2004). "IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development". J. Pediatr. 144 (2): 274–7. doi:10.1016/j.jpeds.2003.09.052. PMID 14760276. Unknown parameter |month= ignored (help)

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[pmid14760276-1] Pedreira CC, Savarirayan R, Zacharin MR (2004). "IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development". J. Pediatr. 144 (2): 274–7. doi:10.1016/j.jpeds.2003.09.052. PMID 14760276. Unknown parameter |month= ignored (help)

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