title: Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?
abstract: Four children with congenital muscular dystrophy (CMD), eye and brain abnormalities are described. Their clinical and neuroradiological features are compatible with a diagnosis of Walker-Warburg syndrome (WWS), according to the criteria proposed by Dobyns et al. (i.e., presence of type II lissencephaly, typical cerebellar and retinal malformations, CMD), who also conclude that WWS is indistinguishable from the muscle-eye-brain disease (MEBD) described by Santavuori. On the basis of our own experience and two recently published series, we emphasize certain features that are different in patients with WWS and patients with MEBD, which make their inclusion in the same syndrome dubious.
authors.affiliation: Dipartimento di Pediatria, Università di Padova, Padua, Italy.
authors.forename: A M
authors.initials: AM
authors.lastname: Laverda
authors.forename: M A
authors.initials: MA
authors.lastname: Battaglia
authors.forename: P
authors.initials: P
authors.lastname: Drigo
authors.forename: P A
authors.initials: PA
authors.lastname: Battistella
authors.forename: G L
authors.initials: GL
authors.lastname: Casara
authors.forename: A
authors.initials: A
authors.lastname: Suppiej
authors.forename: R
authors.initials: R
authors.lastname: Casellato
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009460:Neurologic Examination; D013036:Spasms, Infantile / Q000235:genetics / Q000473:pathology; D013577:Syndrome