IMAGE syndrome: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
IMAGe syndrome is characterized by | IMAGe syndrome is characterized by<ref name="pmid14760276">{{cite journal |author=Pedreira CC, Savarirayan R, Zacharin MR |title=IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development |journal=J. Pediatr. |volume=144 |issue=2 |pages=274–7 |year=2004 |month=February |pmid=14760276 |doi=10.1016/j.jpeds.2003.09.052 |url=}}</ref> | ||
* Intrauterine growth restriction | * Intrauterine growth restriction | ||
* Metaphyseal dysplasia | * Metaphyseal dysplasia | ||
Revision as of 18:42, 13 August 2012
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.