Perlman Syndrome Medical

At Manningham Medical Centre, you can find all the data about Perlman Syndrome Medical. We have collected data about general practitioners, medical and surgical specialists, dental, pharmacy and more. Please see the links below for the information you need.

Perlman syndrome - About the Disease - Genetic and …

https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome/

Perlman syndrome is caused by genetic changes (variants) in the DIS3L2 gene. It is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical exam, and may be confirmed by the results of genetic testing. About Perlman syndrome …

Perlman syndrome - Wikipedia

https://en.wikipedia.org/wiki/Perlman_syndrome

Perlman syndrome - National Organization for Rare …

https://rarediseases.org/gard-rare-disease/perlman-syndrome/

Perlman syndrome causes overgrowth in infancy and affects many different parts of the body. Babies with Perlman syndrome are bigger than most babies and have large …

Perlman syndrome - Living with the Disease - Genetic …

https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome/living/

Perlman Syndrome Service Information Research Country United States Language English Spanish Resources Many diseases impact the quality of life and …

Perlman syndrome - NIH Genetic Testing Registry (GTR) …

https://www.ncbi.nlm.nih.gov/gtr/conditions/C0796113/

Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent …

Entry - #267000 - PERLMAN SYNDROME; PRLMNS

https://www.omim.org/entry/267000

Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an …

Perlman syndrome | Radiology Reference Article

https://radiopaedia.org/articles/perlman-syndrome?lang=us

Perlman syndrome is demonstrated by a combination of many clinical features which includes polyhydramnios, neonatal macrosomia, visceromegaly, …

Perlman syndrome: report, prenatal findings and review

https://pubmed.ncbi.nlm.nih.gov/18780370/

Perlman syndrome is a rare overgrowth syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, …

The Perlman syndrome: familial renal dysplasia with …

https://pubmed.ncbi.nlm.nih.gov/24166810/

We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental …

Perlman Syndrome | Syndromes: Rapid Recognition and …

https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49518060

A high perinatal mortality rate, with 6 of the 12 documented patients dying in the first 4 days of life. Mental retardation is present. Features include macrosomia, visceromegaly, …

Need more information about Perlman Syndrome Medical?

At Manningham Medical Centre, we collected data on more than just Perlman Syndrome Medical. There is a lot of other useful information. Visit the related pages or our most popular pages. Also check out our Doctors page.