Published Date: August 19, 2019

Full Text Article

Antenatal Findings of Keratitis-Ichthyosis-Deafness Syndrome

Authors: Fırat Okmen, Ismet Hortu, Ulduz Jafarova, Metehan Imamoglu, Huseyin Ekici, Ahmet Mete Ergenoglu

J Obstet Gynaecol Can. 2020 Apr;42(4):504-506. doi: 10.1016/j.jogc.2019.06.005. Epub 2019 Aug 14.


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.

PMID: 31421982DOI: 10.1016/j.jogc.2019.06.005