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Peters' plus syndrome
Relevant markers:
Bipartite uvulaFacial cleftHyperechogenicity in anterior eye chamberHypertelorismMicrognathia/retrognathiaProminent foreheadLong philtrumParents markers:Agenesis of corpus callosum (ACC)EyesHeartIntrauterine growth retardation (IUGR/SGA/FGR)MicrophthalmiaPyelectasis/hydronephrosisShort limbsVentriculomegaly
References: 2013 Prenat Diagn Case series (US + pathology) Read on PubMed 2013 Case Rep Genet Case report Read on PubMed Login for more details.