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, cilt.7, ss.127-129, 2016 (ESCI)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7
  • Basım Tarihi: 2016
  • Doi Numarası: 10.4328/jcam.1778
  • Dergi Adı: JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.127-129
  • Anahtar Kelimeler: Ichtyosis Prenatal Diagnosis, Prenatal Ultrasonography, Consanguinity, MUTATIONS
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.