Expanding the spectrum of the Perlman syndrome
1988; Wiley; Volume: 29; Issue: 4 Linguagem: Inglês
10.1002/ajmg.1320290406
ISSN1096-8628
AutoresFrank Greenberg, Karen Copeland, Mary V. Gresik, John M. Optiz, James F. Reynolds,
Tópico(s)Genetic Syndromes and Imprinting
ResumoAbstract 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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