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Assessment of fetal brain abnormalities
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Lissencephaly type I shows a smooth surface of the brain and cerebral wall is similar to that of an approximately 12-week-old fetus (43). Isolated lissencephaly (Fig. 7) or Miller–Dieker syndrome is associated with additional craniofacial abnormalities, cardiac anomalies, genital anomalies, sacral dimple, creases, and/or clinodactyly. Lissencephaly type II shows cobblestone appearance. Walker–Warburg syndrome with macrocephaly, congenital muscular dystrophy, cerebellar malformation, and retinal malformation or Fukuyama congenital muscular dystrophy with microcephaly and congenital muscular dystrophy has been proven.
Paediatric Neurology
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
In Walker–Warburg syndrome, the cortex is thickened, sulci are shallow, meninges thickened and the cerebellum is small with an absent vermis. Hydrocephalus is commonly associated along with eye malformations – retinal dysplasia and microphthalmia. This condition and Fukuyama congenital muscular dystrophy are members of the cobblestone complex in which the glial limiting membrane fails to prevent migration of neurones into the subpial space.
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations
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
Clinical phenotypes of DGPs range from severe to mild entities. The most severe phenotype includes muscular dystrophy with dystroglycanopathy type A (MDDG type A), in which congenital muscular dystrophy (CMD) is associated with brain and eye abnormalities, including Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), and Fukuyama CMD (FCMD). The intermediate type, also defined as muscular dystrophy with dystroglycanopathy type B (MDDG type B), includes CMD with or without intellectual disability. The milder type, muscular dystrophy with dystroglycanopathy type C (MDDG type C), is limb-girdle muscular dystrophy (LGMD). No well-known genotype-phenotype correlation has been clearly defined [4].
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
Walker–Walburg syndrome, Fukuyama congenital muscular dystrophy and muscle-eye-brain disease are the most severe forms of dystroglycanopathies.86 Dystroglycan is involved in the development and maintenance of basal membranes in muscle and non-muscle tissues. CMD is characterized by a combination of progressive muscular dystrophy and central nervous system malformations.