Cobblestone lissencephaly

Carrier Screening For Inherited Genetic Conditions

Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022

Clinical features: This syndrome is caused by abnormal glycosylation of alpha-dystroglycan. This abnormal protein causes progressive weakness of skeletal muscles and abnormal migration of neurons. Affected individuals have hypotonia and can never walk. Cobblestone lissencephaly results in development and intellectual disability. Microphthalmia is also common. Most individuals do not survive past age 3.

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations

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Journal Information

Published in Fetal and Pediatric Pathology, 2023

Silvia Zago, Evelina Silvestri, Tiziana Arcangeli, Marina Calisesi, Chiara Romeo, Giulia Parmeggiani, Elena Parrini, Valentina Cetica, Renzo Guerrini, Andrea Palicelli, Maria Paola Bonasoni

Among the main clinical features, cobblestone lissencephaly is the most important. Obstructive hydrocephalus, corpus callosum agenesis, pontocerebellar hypoplasia with fourth ventricle dilatation, kinking of the brainstem, Dandy–Walker malformation, and occipital encephalocele are also described [5,6]. Eye abnormalities include retinal detachment and blindness, optic nerve hypoplasia, iris malformation, cataract, microphthalmia, and megalocornea [7,8]. Recently, dysplastic/cystic kidneys have been added to the WWS phenotype [9].

Cobblestone lissencephaly

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Carrier Screening For Inherited Genetic Conditions

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations