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Revista Peruana de Ginecología y Obstetricia

On-line version ISSN 2304-5132

Abstract

LACUNZA PAREDES, Rommel Omar  and  JIMENEZ ESPINOZA, Marlon Lluem. Fetal ultrasound evaluation of skeletal dysplasia: apropos of a case of thanatophoric dysplasia. Rev. peru. ginecol. obstet. [online]. 2016, vol.62, n.2, pp.247-250. ISSN 2304-5132.

The case of a 30 weeks pregnant woman and her fetus affected by thanatophoric dysplasia (TD) type I, referred to our Maternal Fetal Medicine Unit, Hospital Nacional Daniel Alcides Carrión, Callao, Perú, due to suspicion of skeletal dysplasia is reported. On the ultrasound, characteristic signs of TD and markers related to high risk of lethality were found. Recommendations are suggested for ultrasound evaluation of suspected cases of skeletal dysplasia, as a differentiated approach to diagnosis.

Keywords : Thanatophoric Dysplasia; Skeletal Dysplasia; Ultrasound, Prenatal.

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