Prenatal diagnosis of G ómez-López-Hernández syndrome

Discussion: As no known genetic causes have been identified and the classical triad is not applicable to prenatal imaging, prenatal diagnosis of GLHS is based on neuro-imaging and the identification of supporting features. In presence of a RES associated with cranio-facial abnormalities in prenatal (brachycephaly, turricephaly, low-set ears, midface retrusion, micrognathia), GLHS should be considered as "possible ” according to postnatal criteria.
Source: Fetal Diagnosis and Therapy - Category: Perinatology & Neonatology Source Type: research