Jarcho-Levin syndrome presenting with severe hydrocephalus: a report of three cases.
Genet Couns
; 24(4): 361-6, 2013.
Article
em En
| MEDLINE
| ID: mdl-24551977
ABSTRACT
Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by defects of spine formation, abnormal fusion of the ribs at the costovertebral and costochondral junction due to abnormal vertebral and costal segmentation. There are two subtypes associated with different distribution and severity of defects in JLS. While vertebral segmentation abnormalities are frequent in spondylo-thoracic subtype costal segmentation and fusion abnormalities are frequent in spondylo-costal subtype. Neural tube defects with severe hydrocephalus are rare findings in this syndrome. Herein we report three infants with severe hydrocephalus associated with Jarcho-Levin syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Cardiopatias Congênitas
/
Hérnia Diafragmática
/
Hidrocefalia
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article