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Jul 2014, Vol 2, Issue 4
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Case Report
Familial Tetra-Amelia Syndrome
Fatma Eskicioglu, Burcu Artunç Ülkümen, Halil Gürsoy Pala, Faik Mümtaz Koyuncu
Celal Bayar University, School of Medicine, Department of Obstetrics and Gynecology, Manisa, Turkey

IJWHR 2014; 2: 263-264
DOI: 10.15296/ijwhr.2014.40
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Keywords : Amelia, Tetra-amelia multiple malformation, X-linked tetra-amelia
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Tetra-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.

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