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Perlman syndrome
Relevant markers:
AscitesDextrocardiaEchogenic kidney/sLarge kidney/sMacrosomiaMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolycystic (enlarged echogenic) kidney/sPolyhydramniosSolid renal massCardiomegalyHepatomegalyParents markers:Cleft in hard palateHeartVisceromegalyMacrocephalyPyelectasis/hydronephrosis
Incidence: 1/1000000 — - Male — Female Ratio: 2 — 1 Inheritance mode: AR Other online databases: OrphaNet, Geneva Foundation, Jablonski's Database References: 2004 J Ultrasound Med Case report Read on PubMed 2008 Am J Med Genet A Review Read on PubMed Login for more details.