FAMILIAL TETRA-AMELIA SYNDROME

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ESKICIOGLU FATMA; ULKUMEN BURCU ARTUNC; PALA HALIL GURSOY; KOYUNCU FAIK MUMTAZ

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Journal Paper

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Journal: International Journal of Women's Health and Reproduction Sciences Year:2014 | Volume:2 | Issue:4 Page(s): 263-264

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Title

FAMILIAL TETRA-AMELIA SYNDROME

Author(s)

ESKICIOGLU FATMA | ULKUMEN BURCU ARTUNC | PALA HALIL GURSOY | KOYUNCU FAIK MUMTAZ | Issue Writer Certificate

Keywords

AMELIA

TETRA-AMELIA MULTIPLE MALFORMATION

X-LINKED TETRA-AMELIA

Abstract

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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APA: Copy

ESKICIOGLU, FATMA, ULKUMEN, BURCU ARTUNC, PALA, HALIL GURSOY, & KOYUNCU, FAIK MUMTAZ. (2014). FAMILIAL TETRA-AMELIA SYNDROME. INTERNATIONAL JOURNAL OF WOMEN’S HEALTH AND REPRODUCTION SCIENCES, 2(4), 263-264. SID. https://sid.ir/paper/334387/en

Vancouver: Copy

ESKICIOGLU FATMA, ULKUMEN BURCU ARTUNC, PALA HALIL GURSOY, KOYUNCU FAIK MUMTAZ. FAMILIAL TETRA-AMELIA SYNDROME. INTERNATIONAL JOURNAL OF WOMEN’S HEALTH AND REPRODUCTION SCIENCES[Internet]. 2014;2(4):263-264. Available from: https://sid.ir/paper/334387/en

IEEE: Copy

FATMA ESKICIOGLU, BURCU ARTUNC ULKUMEN, HALIL GURSOY PALA, and FAIK MUMTAZ KOYUNCU, “FAMILIAL TETRA-AMELIA SYNDROME,” INTERNATIONAL JOURNAL OF WOMEN’S HEALTH AND REPRODUCTION SCIENCES, vol. 2, no. 4, pp. 263–264, 2014, [Online]. Available: https://sid.ir/paper/334387/en

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