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

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...

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Bibliographic Details
Published in:American journal of medical genetics 1999-01, Vol.82 (3), p.257-260
Main Authors: Meyers, Kevin E.C., Kaplan, Paige, Kaplan, Bernard S.
Format: Article
Language:English
Subjects:
Biological and medical sciences
developmental delay
Developmental Disabilities - complications
Diagnosis, Differential
Diseases of the osteoarticular system
Female
Galloway-Mowat syndrome
Humans
Infant
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
microcephaly
Microcephaly - complications
nephrotic syndrome
Nephrotic Syndrome - complications
Syndrome
Citations: Items that this one cites
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Description
Summary: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. Am. J. Med. Genet. 82:257–260, 1999. © 1999 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19990129)82:3<257::AID-AJMG12>3.0.CO;2-7