स्त्री रोग एवं प्रसूति रोग मामले की रिपोर्ट खुला एक्सेस

अमूर्त

A Report of 2 Cases of Tetra-Amelia Syndrome

Mame Diarra N1*, Mamour G1, Simon Birame N1, Abdoulaye D1, Ndeye Gothe FLL2, Magatte M2 and Jean Charles M2

The objective of this study was to report 2 cases of tetra-amelia syndrome. The first case corresponded to a tetra-amelia-1 syndrome with, in addition, facial and probably pulmonary anomalies. He was born 36 weeks of gestation and died within the first 10 minutes of life. The second case had a tetra-amelia-2 phenotype with a symmetrical amelia. No other abnormalities were detected on ultrasound. Tetra-amelia syndrome is extremely rare; it is linked to genetic mutations that cause great phenotypic heterogeneity