Basgul A Y, Kavak Z N, Guducu N, Durukan B, Isci H
Department of Obstetrics and Gynecology, Fetal Medicine Unit, Istanbul Bilim University, Faculty of Medicine, European Florence Nightingale Hospital, Istanbul, Turkey.
Clin Exp Obstet Gynecol. 2011;38(3):283-5.
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.
丑角样鱼鳞病是一种罕见且大多致命的先天性鱼鳞病，对于有该病家族史的患者可通过胎儿皮肤活检进行诊断。最近，羊水穿刺术和绒毛取样材料的DNA分析也已被应用。我们报告一例产前诊断的先天性鱼鳞病病例，该病例无前家族病史。诊断主要通过三维和四维超声检查结果实现，如皮肤弥漫性鳞屑、手指挛缩、发育不全的扁平外耳、鼻发育不全、眼睑外翻、典型的鱼嘴外观、巨舌症以及胎儿嘴巴持续张开。
