Recent discoveries in the molecular biology of the phosphatase and tensin homolog (PTEN) locus in the q22-23 region of chromosome 10 prove and/or suggest that several syndromes previously considered to be clinically and genetically distinct entities should actually be unified into a single entity. T
Nephrotic syndrome, microcephaly, and developmental delay: Three separate syndromes
โ 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
No coin nor oath required. For personal study only.
โฆ 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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