Perlman syndrome

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

Cryptorchidism

Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.


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PMID (PMCID)
10508986
 MIXED_SAMPLE Infant, Newborn
Perlman syndrome: four additional cases and review.
Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ.
Am J Med Genet. 1999;86(5):439-46.
Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies.
2840828
 MALE Infant, Newborn
Expanding the spectrum of the Perlman syndrome.
Greenberg F, Copeland K, Gresik MV.
Am J Med Genet. 1988;29(4):773-6.
We report on an infant with manifestations of Perlman syndrome including polyhydramnios, macrosomia, bilateral nephromegaly with nephroblastomatosis, visceromegaly and cryptorchidism.