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Miller-Dieker syndrome
Relevant markers:
AgyriaBroad nasal bridgeClinodactyly 5th fingerDouble bubble/duodenumFlat nasal bridgeHypoplastic noseLissencephalyMild ventriculomegaly (12-15 mm)PachygyriaPolyhydramniosProminent foreheadProminent upper lipUndescended testesParents markers:Agenesis of corpus callosum (ACC)EarsFaceHeartIntrauterine growth retardation (IUGR/SGA/FGR)MicrocephalyPolydactyly of hand/sUrinary
Incidence: 1/100000 — - Male — Female Ratio: 1 — 2 Involved genes:
(gene — definition — chromosome)17p13.3 Inheritance mode: AD Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database Links: www.sonoworld.com References: 2010 Taiwan J Obstet Gynecol Case report Read on PubMed Login for more details.