IMAGE syndrome: Difference between revisions
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Revision as of 04:10, 19 September 2012
IMAGE syndrome Microchapters |
Diagnosis |
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Treatment |
Case Studies |
IMAGE syndrome On the Web |
American Roentgen Ray Society Images of 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
Head
Ear
- Small low-set ears
Genitals
- Bilateral cryptorchidism
- Micropenis
Extremities
- Skeletal abnormalities.