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Nephrotic syndrome, microcephaly, and developmental delay: Three separate syndromes

โœ Scribed by Meyers, Kevin E.C.; Kaplan, Paige; Kaplan, Bernard S.


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
38 KB
Volume
82
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990129)82:3<257::aid-ajmg12>3.0.co;2-7

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โœฆ Synopsis


We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or may reflect one of at least three syndromes: Galloway-Mowat, a second syndrome of microcephaly, nephrotic syndrome and developmental delay (MNSDD), and a third syndrome of microcephaly, developmental delay, and spondylorhizomelic short stature.


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