Antenatal Findings of Keratitis-Ichthyosis-Deafness Syndrome
Küçük Resim Yok
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Background: Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder characterized by keratitis, ichthyosis, and deafness. This syndrome affects multiple systems and can be fatal. Case: A 34-year-old G2, P1 woman was admitted to the Ege University School of Medicine in Izmir, Turkey because of a rapid increase in abdominal circumference at 32 weeks gestation. Fetal anatomic screening revealed complete chorioamniotic separation, hypoplasia of the cerebellar vermis, and dysmorphic facial findings such as frontal bulging. After the delivery, the baby's whole body had granular thickened skin. Bilateral dry eye, corneal edema, and bilateral retinopathy of prematurity were diagnosed. Conclusion: This case report highlights the importance of prenatal diagnosis through ultrasonography and magnetic resonance imaging. This is the first case report that has antenatal ultrasonographic features in the literature. © 2019 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada.
Açıklama
Anahtar Kelimeler
keratitis-ichthyosis-deafness, pregnancy, ultrasonography, abdominal circumference, adult, Article, candidiasis, case report, cause of death, cerebellum hypoplasia, cerebellum vermis, clinical article, cornea edema, Dandy Walker syndrome, dry eye, face dysmorphia, female, fetus, fetus echography, fetus membrane, gene, gene mutation, gestational age, GJB2 gene, human, KID syndrome, mortality, multiple organ failure, nuclear magnetic resonance imaging, retrolental fibroplasia, septic shock, skin examination, skinfold thickness, Turkey (republic), diagnostic imaging, echography, hearing impairment, ichthyosis, keratitis, newborn, pregnancy, prenatal diagnosis, procedures, turkey (bird), Adult, Deafness, Female, Humans, Ichthyosis, Infant, Newborn, Keratitis, Magnetic Resonance Imaging, Pregnancy, Prenatal Diagnosis, Turkey, Ultrasonography
Kaynak
Journal of Obstetrics and Gynaecology Canada
WoS Q Değeri
Scopus Q Değeri
Q2
Cilt
42
Sayı
4
