Pesquisa sobre:
WALKER-WARBURG SYNDROME
Descritores Encontrados:
1
Mostrando:
1 .. 1
1 / 1
DeCS
Descritor
Inglês
:
Walker-Warburg Syndrome
Descritor
Espanhol
:
Síndrome de Walker-Warburg
Descritor
Português
:
Síndrome de Walker-Warburg
Sinônimos
Inglês
:
alpha-Dystroglycanopathies
Cerebromuscular Dystrophy, Fukuyama Type
Chemke Syndrome
Fukuyama Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy
Muscle-Eye-Brain Disease
Muscular Dystrophy, Congenital, Fukuyama Type
Warburg Syndrome
Categoria:
C10.500.507.249.249.500
C11.270.881
C16.131.666.507.186.249.500
C16.320.577.750
Definição
Inglês
:
Rare autosomal recessive
lissencephaly
type 2 associated with congenital MUSCULAR DYSTROPHY and
eye
anomalies (e.g.,
RETINAL DETACHMENT
;
CATARACT
;
MICROPHTHALMOS
). It is often associated with additional
brain
malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common
congenital abnormalities
in the
brain
,
eye
and
muscle development.
Relacionados
Inglês
:
Dystroglycans
Nota Histórica
Inglês
:
2011
Qualificadores Permitidos
Inglês
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Número do Registro:
53966
Identificador Único:
D058494
Ocorrência na BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS