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FADS (Fetal Akinesia Deformation Sequence)
Relevant markers:
AkinesiaCamptodactylyClubhandGastroschisisGenu recurvatum of kneeHydropsHypertelorismHypokinesiaHypoplastic lung/sHypoplastic thoracic cageLow set ear/sMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolyhydramniosScalp edemaShort neckTalipesUlnar deviationParents markers:Cleft in hard palateContractures/arthrogryposisIntrauterine growth retardation (IUGR/SGA/FGR)MicrocephalyScoliosis
Incidence: 1/10000 — - Involved genes:
(gene — definition — chromosome)5q35, 9p21?q21, 11p15.5 Inheritance mode: AD References: 2012 Taiwan J Obstet Gynecol Review Read on PubMed Login for more details.