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vol.75 issue4ESTUDIO DE LA TORSIÓN OVÁRICA FETAL INTRAUTERINA MEDIANTE ECOGRAFÍA 3DHIDROCEFALIA UNILATERAL: CASO CLÍNICO Y REVISIÓN DE LA LITERATURA author indexsubject indexarticles search
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Revista chilena de obstetricia y ginecología

Print version ISSN 0048-766XOn-line version ISSN 0717-7526

Abstract

PADILLA P, Ana Isabel et al. HIDROPS FETAL COMO MANIFESTACIÓN ECOGRÁFICA DE UNA ENFERMEDAD FAMILIAR: INCONTINENTIA PIGMENTI (SÍNDROME DE BLOCH-SULZBERGER). Rev. chil. obstet. ginecol. [online]. 2010, vol.75, n.4, pp.257-259. ISSN 0048-766X.  http://dx.doi.org/10.4067/S0717-75262010000400008.

We revealed a family disease by a fetal anomaly. The patient had a history of two early miscarriages of male fetuses. In the present pregnancy hydrops fetalis was demonstrated by routine ultrasound sean at 12 weeks. Serological tests were negative and chorionic villous sampling revealed normal karyotype, 46XY. We suspected a X-linked disease. Detailed family history leaded to the demonstration that the patient and a sister were affected of a rare genodermatosis: Incontinentia Pigmenti.

Keywords : Incontinentia Pigmenti; habitual abortion; hydrops fetalis.

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