Prenatal Diagnosis of Harlequin Ichthyosis: Report of a Case

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SANHAL C. Y., Ozekinci M., SAKINCI M., ŞİMŞEK M., MENDILCIOGLU I.

JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE, vol.7, pp.127-129, 2016 (ESCI, Scopus, TRDizin)

  • Publication Type: Article / Article
  • Volume: 7
  • Publication Date: 2016
  • Doi Number: 10.4328/jcam.1778
  • Journal Name: JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.127-129
  • Keywords: Ichtyosis Prenatal Diagnosis, Prenatal Ultrasonography, Consanguinity, MUTATIONS
  • Open Archive Collection: AVESIS Open Access Collection
  • Akdeniz University Affiliated: Yes

Abstract

Harlequin ichthyosis (HI) the most severe form of keratinizing disorders, often lethal in the neonatal period - is characterized by a profound thickening of the keratin skin layer, a dense armor-like scale that covers the body, and contraction abnormalities of the eyes, ears, and mouth. Here, we report a recurrent case of fetal HI and its prenatal ultrasonographic diagnosis in a Turkish consanguine couple.