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Updated: Aug 17, 2026

TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism
Published on: December 29, 2010
Expanding the spectrum of the Perlman syndrome
F Greenberg1, K Copeland, M V Gresik
1Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.
Abstract:
We report on an infant with manifestations of Perlman syndrome including polyhydramnios, macrosomia, bilateral nephromegaly with nephroblastomatosis, visceromegaly and cryptorchidism. Other findings in this infant not seen in previous patients were diaphragmatic hernia, interrupted aortic arch, hypospadias and polysplenia. This infant meets the diagnostic criteria for Perlman syndrome, suggesting that diaphragmatic hernia and cardiac defects may be additional findings in this disorder.
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