Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI
نویسندگان
چکیده
منابع مشابه
Harlequin ichthyosis (or harlequin fetus)
The pat ient was a female neonate bor n prematurely on 36 weeks of gestation by normal vaginal delivery. During pregnancy, mother had no history of fever, drug use or x-ray exposure. The mother was gravida 2 and had no history of abortion. Her first baby was well. On physical examination, the skin was markedly thickened, hard and hyperkeratotic with deep crevices running transversely and vertic...
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Harlequin ichthyosis (HI) is a severe skin disease which leads to neonatal death in ∼50% of cases. It is the result of mutations in ABCA12, a protein that transports lipids required to establish the protective skin barrier needed after birth. To better understand the life-threatening newborn HI phenotype, we analysed the developing epidermis for consequences of lipid dysregulation in mouse mode...
متن کاملHarlequin ichthyosis in a neonate born with assisted reproductive technology: a case report
Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenatal diagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (ART). In this case, the diagnosis of harlequin ichth...
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Improvements in magnetic resonance imaging (MRI) technology continue to provide faster scan times and higher resolution increasing the applications for fetal imaging. MRI is an adjunct to good prenatal ultrasound scan (US). It provides significant additional information that improves diagnostic accuracy in evaluation of the fetal brain, spine, neck, chest, abdomen, and urinary tract. MRI provid...
متن کاملHarlequin ichthyosis: Case report
Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with ...
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ژورنال
عنوان ژورنال: Indian Journal of Radiology and Imaging
سال: 2019
ISSN: 0971-3026
DOI: 10.4103/ijri.ijri_105_19