Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?
Childs Nerv Syst
; 9(2): 84-7, 1993 Apr.
Article
en En
| MEDLINE
| ID: mdl-8319237
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Encéfalo
/
Anomalías del Ojo
/
Distrofias Musculares
Límite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Childs Nerv Syst
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
1993
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Alemania