Expresión de búsqueda:
PYCNODYSOSTOSIS
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DeCS
Descriptor
Inglés
:
Pycnodysostosis
Descriptor
Español
:
picnodisostosis
Descriptor
Portugués
:
Picnodisostose
Sinónimos
Inglés
:
Pycnodysostoses
Pyknodysostoses
Pyknodysostosis
Categoría:
C05.116.099.708.779
C16.320.565.595.800
C16.320.812
C18.452.648.595.800
Definición
Inglés
:
Rare autosomal recessive
syndrome
characterized by delayed closing of
CRANIAL SUTURES
, short stature,
ACRO-OSTEOLYSIS
of distal phalanges, dental and
MAXILLOFACIAL ABNORMALITIES
and an increase in
bone density
that results in frequent BONE FRACTURES. It is associated with
BONE RESORPTION
defect due to
mutations
in the lysosomal
cysteine
protease
CATHEPSIN K.
Nota Histórica
Inglés
:
2011
Calificadores Permitidos
Inglés
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
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
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology
Número del Registro:
53947
Identificador Único:
D058631
Ocurrencia en la BVS
:
Similar:
DeCS