Farhadi Roya, Kazemi Seyyed Habib
Assistant professor of neonatology, Pediatric department of Booali-Sina Hospital, Mazandaran University of Medical science, Sari, Iran.
MD., Vice-chancellor for Treatment, Mazandaran University of Medical science, Sari, Iran,
Med J Islam Repub Iran. 2013 Nov;27(4):229-32.
Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis isdifficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenataldiagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology(ART). In this case, the diagnosis of harlequin ichthyosis was not established by conventional prenatal screening.
丑角样鱼鳞病是一种罕见且最为严重的先天性鱼鳞病。尽管对这种疾病进行产前诊断较为困难,但近来,随着基于DNA的产前诊断方法的应用,这一障碍已得到显著改善。在此,我们报告了一例通过辅助生殖技术(ART)出生的患有丑角样鱼鳞病的新生儿。在该病例中,常规产前筛查未确诊丑角样鱼鳞病。