Abstract

REYNA-VILLASMIL, Eduardo. Prenatal diagnosis of Delleman-Oorthuys syndrome. Rev. peru. ginecol. obstet. [online]. 2022, vol.68, n.2, 00010.  Epub July 06, 2022. ISSN 2304-5132.  http://dx.doi.org/10.31403/rpgo.v68i2416.

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.

Keywords : Delleman-Oorthuys syndrome; Eye anomalies; Cutaneous anomalies; Cerebrum anomalies; Prenatal diagnosis..

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