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Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.
Case Report
Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography
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1
Department of Obstetrics and Gynecology, Fetal Medicine Unit, Istanbul Bilim University, Faculty of Medicine, European Florence Nightingale Hospital
2
Department of Obstetrics and Gynecology, Fetal Medicine Unit, Marmara University, School of Medicine
3
Department of Obstetrics and Gynecology, Istanbul Goztepe Education and Research Hospital, Istanbul (Turkey)
Clin. Exp. Obstet. Gynecol. 2011, 38(3), 283–285;
Published: 10 September 2011
Abstract
Harlequin fetus is a rare and mostly fatal form of congenital ichthyosis that can be diagnosed by fetal skin biopsy in patients with a family history of the disease. More recently DNA analysis of amniocentesis and chorion villus sampling materials have also been utilized. We report a case of prenatally diagnosed congenital ichthyosis with no previous family history. Diagnosis was mainly achieved by 3D and 4D ultrasonography findings such as diffuse scaling of the skin, digital contractures, flattened rudimentary external ear, nasal hypoplasia, everted eyelids, typical fish mouth appearance, macroglossia, and persistently open fetal mouth.
Keywords
3D ultrasound
Harlequin ichthyosis
Prenatal diagnosis