Harlequin Ichthyosis (HI) Associated with Atrial Septal Defect (ASD) and Choanal Atresia
نویسندگان
چکیده
منابع مشابه
Integrated Percutaneous Atrial Septal Defect Occlusion and Pulmonary Balloon Valvuloplasty
Introduction: Atrial Septal Defect (ASD) is one of the most common congenital heart diseases during childhood. Today, ASD closure is done by occlutech device via cardiac catheterization. ASD repair with transcatheter technique has shown high closure rate. However, coexistence of severe pulmonary stenosis and large defect in atrial septum is rare. When these two problems coexist, the result is i...
متن کاملHarlequin 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...
متن کاملTricuspid atresia with atrial septal defect, ventricular septal defect, and right ventricular hypoplasia demonstrated by multidetector computed tomography.
A34-year-old woman was referred to our department for evaluation of her known congenital heart disease (tricuspid atresia [TA] with an atrial septal defect [ASD] and a ventricular septal defect [VSD]). She had refused surgery in her adolescence and had since been followed up medically. A contrast enhancement CT examination using multidetector CT was performed by use of 2 methods.1–3 Figures 1 a...
متن کاملHarlequin ichthyosis unmasked: a defect of lipid transport.
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. In this issue of the JCI, Akiyama et al. report that mutations in ABCA12 caused defective lipid transport t...
متن کاملPatient with Atrial Septal Defect
Patients with an atrial septal defect (ASD) have a left to right shunt with associated complications. Currently, various imaging modalities, including echocardiography and invasive cardiac catheterization, are utilized in the management of these patients. Cardiac magnetic resonance (CMR) imaging provides a novel and non-invasive approach for imaging patients with ASDs. A study of vortices gener...
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ژورنال
عنوان ژورنال: Serbian Journal of Dermatology and Venereology
سال: 2020
ISSN: 2406-0631,1821-0902
DOI: 10.2478/sjdv-2020-0015