Open AccessPrenatal Diagnosis of Harlequin Ichthyosis: Report of a Case
Author(s) -
Cem Sanhal
Publication year - 2016
Publication title -
the annals of clinical and analytical medicine
Language(s) - English
Resource type - Journals
ISSN - 2667-663X
DOI - 10.4328/jcam.1778
Subject(s) - medicine , prenatal diagnosis , dermatology , ichthyosis , pregnancy , fetus , genetics , biology
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