Familial tetra-amelia syndrome

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dc.contributor.authorEskicioglu F.
dc.contributor.authorÜlkümen B.A.
dc.contributor.authorPala H.G.
dc.contributor.authorKoyuncu F.M.
dc.date.accessioned2024-07-22T08:15:34Z
dc.date.available2024-07-22T08:15:34Z
dc.date.issued2014
dc.description.abstractTetra-amelia is known as an anomaly characterized by the absence of all four limbs. It is a rare congenital anomaly, with an incidence of 1.5-4 per 100,000 births. It occurs as a result of developmental interruption between 24th and 36th days after fertilization. Its etiology is not well known. It may be observed isolated or associated with other anomalies. In this paper, we present an interesting case of an intra-uterine diagnosed tetra-amelia male fetus with the recurrence in the previous two more male fetuses in the same family. Tetra- amelia syndrome observed in all three male fetuses of a couple with blood relationship is presented. The first two male newborn died just after birth due to prematurity in 28th and 32nd weeks. The third male fetus was in 23nd weeks of the intrauterine life. There was no exposure to teratogenic agents in this pregnancy. It detected that the third male baby had subcutaneous edema, intra-abdominal ascites and lateral ventricle enlargement in cranium. Since tetra-amelia due to genetic inheritance based on X chromosome was suspected, the family was offered the options of termination of pregnancy, karyotype analysis and genetic consultation. © 2014 The Author(s).
dc.identifier.DOI-ID10.15296/ijwhr.2014.40
dc.identifier.issn23304456
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/16746
dc.language.isoEnglish
dc.publisherAras Part Medical International Press
dc.rightsAll Open Access; Gold Open Access
dc.subjectadult
dc.subjectArticle
dc.subjectascites
dc.subjectbrain ventricle dilatation
dc.subjectcase report
dc.subjectfamilial tetra amelia syndrome
dc.subjectfemale
dc.subjectfetus
dc.subjectfetus echography
dc.subjectgenetic counseling
dc.subjecthuman
dc.subjectkaryotyping
dc.subjectmale
dc.subjectphocomelia
dc.subjectpregnancy
dc.subjectpregnancy termination
dc.subjectprematurity
dc.subjectprenatal growth
dc.subjectskin edema
dc.subjectskull
dc.subjectX chromosome
dc.subjectyoung adult
dc.titleFamilial tetra-amelia syndrome
dc.typeArticle

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