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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 9620 foetal maternal varicella-zoster syndrome Eponyms: Inheritance: chickenpox foetal effects varicella-zoster (VZV) embryopathy no genetic Semeiological Cutaneous-neuro-oculo-skeletal disorder. Focal cutaneous ulcerations/scarring/cicatrix/reduction, deformities, other multiple defects including cataract, choroidoretinal changes. Foetal liver hyperechogenicities. Tendency Synthesis: to develop leukaemia, cervical carcinoma Detection of VZV DNA in foetal blood and amniotic fluid by PCR. Diagnosis in the immediate newborn period through cultures for the offending agents, antibody titers, placental evaluation. Small risk (about 2%) of teratogenic effects between 13 and 20 weeks gestation. Group Sub group Signs: DERMATOLOGICAL DISORDERS cutis, dysplastic, not including ectodermal dysplasia cutis, scarring LABORATORY DATA gene, structural-functional anomalies gene analysis-DNA analysis VZV DNA, Varicella-Zoster virus DNA NEOPLASTIC DISEASES cancer, genetic features tumour susceptibility NEUROLOGICAL DISORDERS brain anomalies brain hypodeveloped, brain atrophy, brain degeneration, encephalopathy, including cerebral palsy microcephaly, microcrania ventriculomegaly, wide ventricles mental retardation mental retardation neurological dysfunctions seizures, convulsions, epilepsy OCULAR DISORDERS choroidoretinal defects choroidoretinal dystrophy retinal pigmentation changes, retinal flecks corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects nystagmus lens, defects cataract, congenital cataract, no isolated defect cataract, unspecified type OTHERS inheritance inheritance, no genetic supergroups cutaneous-oculo disorders PRENATAL-NEONATAL MODIFIED DATA extrafoetal membrane, changes polyhydramnios umbilical artery, single foetal changes bilateral foetal fluid collections in the head birth length, decreased; low birth length foetal maternal varicella-zoster syndrome Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database birth weight, low; foetal growth decreased, intrauterine growth retardation, intrauterine growth restriction, IUGR foetal changes, induced by maternal infections foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques hydrops foetalis, foetal hydrops, including foetal ascites prenatal diagnosis prenatal diagnosis, echographic prenatal diagnosis, molecular SKELETAL DISORDERS fingers, defects ectrodactyly, adactyly, oligodactyly hand-foot, changes club foot, talipes, pes equinovarus hand, clenched limb anomalies, limb defects ectromelia; limbs, mutilations Super group: cutaneous-neurological disorders cutaneous-ocular disorders Super aggreg. FOETAL CHANGES foetal changes, induced by maternal infections Aggregations: foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques FOETAL FLUID COLLECTIONS IN THE HEAD bilateral foetal fluid collections in the head NEOPLASTIC DISORDERS tumour, susceptibility OTHER cataract, not isolated defect Differential diagnosis: Bibliography 1410 amniotic bands sequence 4570 cataract-leg deformity syndrome 9490 foetal maternal herpes simplex virus 1 syndrome B.D.Encyclopedia 2499 p.708 Prenat.Diagn.19,163-166,1999 Prenat.Diagn. 21,121-124,2001 Smith's Recognizable Patterns of Human Malformation. 6th Edition pag. 662-663 Peter S.Harper: Practical Genetic Counselling. 6th Ed. 2004 pag. 347 Annuario Orphanet-Italia delle Malattie Rare 2005, pag.322 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.906,2007 foetal maternal varicella-zoster syndrome Page 2 of 2