SciELO - Scientific Electronic Library Online

 
vol.8 issue1Selective intrauterine growth restriction in monochorionic-diamniotic twins: diagnosis and managementDermatomyositis associated with malignancy author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO

Share


Revista del Nacional (Itauguá)

Print version ISSN 2072-8174

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.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License