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Neu-Laxova syndrome
Relevant markers:
Agenesis of vermisAkinesiaArthrogryposis/ContracturesCataractChoroid plexus cyst (CPC)Clenched hand/sCurved penisDandy Walker malformationElbow pterygiaFacial cleftFixed extended kneeFixed flexed elbowFixed flexion of hip/sFlat nasal bridgeHydranencephaly (no cortex)HydropsHypertelorismHypoplasia/partial agenesis of vermisLimb edemaLissencephalyMicrocephalyMicrognathia/retrognathiaPolyhydramniosProptosis/prominent eyesReceding foreheadSevere IUGR/SGAShort cordShort corpus callosumShort neckSmall placentaSymmetric IUGR/SGATalipesUndescended testesUnilateral hypoplasia/atrophy of cerebellumRocker-bottom feetParents markers:Agenesis of corpus callosum (ACC)BrainContractures/arthrogryposisEarsHeartHypoplasia/atrophy of cerebellumKyphosisMicrophthalmiaNeural tube defectRenal agenesisShort limbsSyndactyly of fingersVentriculomegaly
Incidence: 1/1000000 — - Inheritance mode: AR Other online databases: OrphaNet, OMIM Links: www.sonoworld.com References: 1992 Am J Med Genet Case report Read on PubMed 2010 J Turk Ger Gynecol Assoc Case report Read on PubMed 2011 J Miss State Med Assoc Review Read on PubMed 2015 Am J Med Genet A Case report Read on PubMed Login for more details.