title: Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern.
abstract: We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been described previously. This pattern was encountered in four index cases and allowed prenatal diagnosis of CL associated with Walker-Warburg syndrome. The pattern included both an outer echogenic band with reduced pericerebral space, corresponding to an infra- and supratentorial extracortical layer of neuroglial overmigration on pathological examination, and a 'Z'-shaped appearance of the brainstem. This pattern was found as early as 14 weeks' gestation in one of our cases.
authors: Département d'Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Lyon-Bron, France.
authors: A
authors: A
authors: Lacalm
authors: Laboratoire de Pathologie, Hôpital Femme Mère Enfant, Lyon-Bron, France.
authors: B
authors: B
authors: Nadaud
authors: Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant, Lyon-Bron, France.
authors: M
authors: M
authors: Massoud
authors: Département de Génétique, Hôpital Femme Mère Enfant, Lyon-Bron, France.
authors: A
authors: A
authors: Putoux
authors: Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant, Lyon-Bron, France.
authors: P
authors: P
authors: Gaucherand
authors: Département d'Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Lyon-Bron, France.|Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant, Lyon-Bron, France.
authors: L
authors: L
authors: Guibaud
mesh_terms: D000328:Adult; D054222:Cobblestone Lissencephaly / Q000000981:diagnostic imaging*; D004453:Echoencephalography; D005260:Female; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal; D058494:Walker-Warburg Syndrome / Q000000981:diagnostic imaging*
keywords: CNS; MRI; Walker-Warburg syndrome; cobblestone lissencephaly; fetal; ultrasound