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Thanatophoric dysplasia: ultrasound diagnosis
L E Machado1, F Bonilla-Musoles, F Raga
1Centro de Treinamento Por La Imagen, Salvador, Bahia, Brazil.
Six pregnant women with singleton fetuses were referred to our Prenatal Diagnostic Centers because of an initial diagnosis of intrauterine growth restriction (n = 4) or short femoral length (n = 2). We first examined the patients with two-dimensional (2D) ultrasonography (US), and then with three-dimensional (3D) US, and arrived at a definitive diagnosis of thanatophoric dysplasia. Although in experienced hands a diagnosis of thanatophoric dysplasia can be made with 2D US before the 24th week of gestation, our experience suggests that 3D US is a valuable complement to 2D US for the evaluation of fetuses with skeletal dysplasias.
Six pregnant women with singleton fetuses were referred to our Prenatal Diagnostic Centers because of an initial diagnosis of intrauterine growth restriction (n = 4) or short femoral length (n = 2). We first examined the patients with two-dimensional (2D) ultrasonography (US), and then with three-dimensional (3D) US, and arrived at a definitive diagnosis of thanatophoric dysplasia. Although in experienced hands a diagnosis of thanatophoric dysplasia can be made with 2D US before the 24th week of gestation, our experience suggests that 3D US is a valuable complement to 2D US for the evaluation of fetuses with skeletal dysplasias.