Adrenal hypoplasia congenita (AHC) is a rare condition and causes primary 
adrenal insufficiency. X-linked (OMIM 300200) and autosomal recessive (OMIM 
240200) forms are recognized. Recently, an association between Intrauterine 
growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and 
Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described. We 
present the clinical features of two sisters with intrauterine growth 
restriction, AHC, and dysmorphic features. Interesting histopathologic findings 
of one sister are also presented. We suggest that IMAGe syndrome is the most 
plausible diagnosis and that autosomal recessive inheritance is likely. We 
analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, 
and STAR), and no mutations were found. Other cases of IMAGe syndrome are 
reviewed.