Abstract

FILIPPI, Juan Alberto  and  ATOBE, Mamoru Oscar. Prenatal diagnosis ultrasonographic thanatophoric dysplasia: report of a case. Rev. Nac. (Itauguá) [online]. 2016, vol.8, n.1, pp.62-69. ISSN 2072-8174.  https://doi.org/10.18004/rdn2016.0008.01.062-069.

Thanatophoric dysplasia is probably the most common lethal dysplasia. It occurs in about 0.69 of 10,000 births. Its etiologyis dominantand autosomal probabilly dueto new mutations from growth factor receptor fibroblasts. The pathogenesis is dueto disorganization of the growth cartilage with persistente of parenchymal like tissue. It´s a lethal congenital chondrodysplasia characterized by short limbs, thoracichypoplasia, skull cloverleaf, simiancrease, shortened femur, thoracic narrowing, prominent forehead, cephalic pole with increased dimension seven without ventriculomegaly, redundancy of the soft tissues. Also polyhydramniosis associated with in 70% of cases. The associated anomalies are hydrocephalus, kidney abnormalities, atrial septal defect, abnormal tricuspidvalve, imperforateanus which radioulnarsynostosis. The present a case with thanatophoric dysplasia which has been diagnosed with prenatal ultrasound.

Keywords : thanatophoric dysplasia, fetal malformation, prenatal diagnosis, ultrasound.

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