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Diseases: What´S Tetra Amelia? Essay

987 words - 4 pages

Tetra-amelia is the most severe limb reduction defect; an extremely rare genetic disorder characterised by the complete absence of all four limbs and a wide range of accompanying anomalies including cranio-facial malformations, urogenital defects and lung hypoplasia/aplasia. Initially categorised by the literature as Roberts Syndrome, an autosomal recessive disorder signposted by phocomelia and cranio-facial, heart, kidney and genital defects, the fact that new cases were few and far between left room for postulation as to whether it was Roberts syndrome, a new X-linked disorder or a different autosomal recessive genetic disorder presented. It wasn’t until 1993 that an autosomal recessive ...view middle of the document...

Thorough scrutinies of the families were also undertaken, focusing on variables such previous parity, consanguinity (only Rosenak et al (1991) reported non-consanguineous parents) and history of birth defects, although confirmation of these cases was not always possible, due to inaccessibility or lack of hospital records. Pedigrees were used to effectively track affected neonates and draw conclusions regarding inheritance. The most significant cytogenic study undertaken was chromosomal investigation to detect any anomalies, particularly those seen with Robert’s syndrome, to aid in the diagnosis.

Much debate occurred considering if the presented cases were incidents of Robert’s syndrome, a different autosomal recessive disorder, or a new X-linked syndrome. All four cases between 1985 and 1993 considered, but then dismissed diagnosis of Robert’s syndrome for varying reasons. Characterised by phocomelia, as opposed to complete limb agenesis, Robert’s had a specified list of accompanying deformities. Each of the four studies showed evidence of extra anomalies being present. For example, the absence of the ears, nose and nipples, communication of bladder and rectum with atresia of anus was present in the studies by Zimmer et al and Gershoni Baruch et al, noting that the study by Gershoni-Baruch et al was a continuation of Zimmer et al (1985), reporting on the same same family but with new cases. Rosenak and Zlotogora had similar findings, both concluding that a lack of midline anomalies on top of complete pulmonary agenesis was atypical of Roberts. Chromosome studies by Zimmer et al, Gershoni Baruch et al and Rosenak et al provided further evidence to the case against Roberts syndrome, with a lack of the typically premature sister chromatid separation with a pulled out or expanded centromere. Due to the high prevalence of consanguinity in the families and its similarities to Robert’s Syndrome, Rosenack and Zlotogora proposed a new autosomal recessive tetra-amelia syndrome. Zimmer and Gershoni-Baruch went further, suggesting an X-Linked syndrome, as all cases in...

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