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Potter syndrome type 1
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oligohydramnios (lack of amniotic fluid) and compression while in the uterus. Features may include 'Potter facies', which consists of a flattened nose, recessed chin, epicanthal folds, and low-set abnormal ears; pulmonary hypoplasia; skeletal malformations; ophthalmologic (eye) malformations; and heart defects. Potter syndrome type 1 is caused by autosomal recessive polycystic kidney disease (ARPKD), which is linked to a mutation in the PKHD1 gene.Potter syndrome refers to the typical physical appearance and associated pulmonary hypoplasia (limited lung development) of a newborn as a direct result of kidney failure,
Last updated: 5/31/2011
- Sushil Gupta and Carlos E Araya. Potter syndrome. eMedicine. June 30, 2010; http://emedicine.medscape.com/article/983477-overview. Accessed 5/31/2011.
- Potter's Syndrome FAQ's. Potter's Syndrome Website. http://www.potterssyndrome.org/pottersfaqs.html. Accessed 5/31/2011.
- Genetics Home Reference (GHR) contains information on Potter syndrome type 1. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Click on the link to view this information.
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- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Potter syndrome type 1. Click on the link to go to OMIM and review these resources.