Prenatal diagnosis of Delleman-Oorthuys syndrome

Abstract

Delleman-Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare,
congenital, sporadic disorder characterized by microphthalmia/anophthalmia with
or without orbital cysts, focal skin defects, and intracranial alterations. Due to an
asymmetric distribution of the clinico-radiological features, absence of recurrence
within the family and its higher frequency in males, the possibility of somatic
mosaicism or sporadic mutations in the fifth or sixth week of fetal development has
been proposed. Suggested minimal diagnostic criteria include microphthalmia or
orbital cysts, central nervous system cysts or hydrocephalus, and focal skin defects.
Given the variability of manifestations and overlap with other syndromes, diagnosis
can be difficult, but prenatal detection of this rare congenital anomaly with cerebral
malformations is crucial in the management of newborns. Imaging studies for
evaluation of features are helpful in the identification and differentiation of cases. A
case of prenatal diagnosis of Delleman-Oorthuys syndrome is presented.