PAROLE IN INGLESE ASSOCIATE CON «PYKNODYSOSTOSIS»
pyknodysostosis
pycnodysostosis
from
greek
πυκνός
puknos
meaning
dense
defective
ostosis
condition
bone
lysosomal
storage
disease
caused
mutation
gene
that
codes
enzyme
cathepsin
pyknodysostosis
radiology
reference
article
radiopaedia
osteopetrosis
acro
osteolytica
rare
autosomal
recessive
dysplasia
characterised
osteosclerosis
short
stature
report
case
with
review
literature
disorder
characterized
post
natal
onset
limbs
generalized
dental
facial
abnormalities
abstract
summary
osteoclast
dysfunction
causing
associated
maxillofacial
webmd
important
possible
main
title
name
expected
please
check
listing
find
alternate
facts
about
symptoms
treatment
learn
more
also
known
which
genetic
causes
brittle
bones
define
pĭk
dĭs
sĭs
inherited
delayed
closure
fontanelles
medical
pik″no
dis″os
hereditary
syndrome
dwarfism
skeletal
anomalies
cranium
10 LIBRI IN INGLESE ASSOCIATI CON «PYKNODYSOSTOSIS»
Scopri l'uso di
pyknodysostosis nella seguente selezione bibliografica. Libri associati con
pyknodysostosis e piccoli estratti per contestualizzare il loro uso nella letteratura.
1
Rockwood and Wilkins' Fractures in Children
Pyknodysostosis, also known as Maroteaux-Lamy syndrome, is a rare syndrome
of short stature and generalized sclerosis of the entire skeleton. The dense brittle
bones of affected children are highly susceptible to pathologic fractures.
James H. Beaty, James R. Kasser, 2010
2
Pediatric Endocrinology: Mechanisms, Manifestations, and ...
Pyknodysostosis Pyknodysostosis was first described in 1962 (46,47). It is a rare,
autosomal recessive disorder characterized by osteosclerosis with a generalized
increase in bone density, separated cranial sutures, blue sclerae, a beaked ...
Ora Hirsch Pescovitz, Erica A. Eugster, 2004
3
Teaching Atlas of Musculoskeletal Imaging
Pyknodysostosis does not demonstrate the Erlenmeyer flask deformity or the "
bone-within-a-bone" deformity. q Cleidocranial dysostosis does not share the
dense bones or acro-osteolysis seen in pyknodysostosis. q The artist Henri de ...
Peter L Munk, Anthony G Ryan, 2011
4
Essentials of Pediatric Radiology: A Multimodality Approach
The syndrome of pyknodysostosis consists of osteosclerosis; short stature; frontal
and occipital bossing; a small face with a receding chin; short, broad hands; and
hypoplasia of the nails. Radiographic findings include generalized and uniform ...
Heike E. Daldrup-Link, Charles A. Gooding, 2010
5
NORD Guide to Rare Disorders
FRCS(Edin). DEFINITION: Pyknodysostosis is a sclerosing osteochon-
drodysplasia. DIFFERENTIAL DIAGNOSIS: Osteopetrosis; Cleidocra- nial
dysostosis. SYMPTOMS AND SIGNS: Dwarfism, osteopetrosis, abbreviated
terminal phalanges ...
National Organization for Rare Disorders, 2003
6
Tachdjian's Pediatric Orthopaedics: From the Texas Scottish ...
Pyknodysostosis Pyknodysostosis was first described by Maroteaux and Lamy in
1962.14,15 The term pyknodysostosis was derived from the Greek words pycnos
(meaning “thick” or “dense”), dys (meaning “defective”), and osteon (meaning ...
Unlike cystic fibrosis, pyknodysostosis is extremely rare although it has achieved
disproportionate notoriety because of the possibility that Toulouse Lautrec was
affected (see Box 4.2). The reason that it is included here, along with much more
...
8
Syndromes of the Head and Neck
Currarino G: Primary spondyloysis of the axis vertebra (C2) in three children
including one with pyknodysostosis. Pediatr Radiol 19:535–538, 1989. 10.
Darcan S et al: A case of pycnodysostosis with growth hormone deficiency. Clin
Genet ...
M.S. D.Sc. Regents' Professor Emeritus of Oral Pathology and Genetics at School of Dentistry Robert J. Gorlin D.D.S, D.M.D. M. Michael Cohen Jr., Ph.D. Professor Oral Pathology Faculty of Denistry, Ph.D. Department of Pediatrics and Medical Genetics Raoul C.M. Hennekam M.D., Academic Medical Center University of Amsterdam, 2001
9
essentials of skeletal radiology
Unlike osteopetrosis, the medullary canal is maintained in patients with
pyknodysostosis; therefore, anemia and splenomegaly are not associated with
this dysplasia. (6,8) A patient presenting with extramedullary hematopoiesis has
been ...
Pyknodysostosis. (PKND;. MIM. 265800). The features of this disorder are
deformities of the skull (with wide sutures), of the maxilla and the phalanges;
patients have osteosclerosis and bone fragility (Figure 7.4). Linkage analysis
indicates the ...
Felix Bronner, Mary C. Farach-Carson, Mary Farach-Carson, 2003
2 NOTIZIE DOVE SI INCLUDE IL TERMINE «PYKNODYSOSTOSIS»
Vedi di che si parla nei media nazionali e internazionali e come viene utilizzato il termine ino
pyknodysostosis nel contesto delle seguenti notizie.
Uncommonly Ill -- The Double Whammy of Suffering from a Rare …
If a diabetic can be told she's faking it, imagine what might be said to someone with pyknodysostosis, say, or congenital wandering spleen. "It's been easier for ... «AlterNet, apr 10»
Dental and Facial Bone Abnormalities in Pyknodysostosis: CT …
Please address correspondence to Keith W. Fleming, MD, New York Presbyterian Hospital/Weill Cornell Medical Center, 525 E. 68th St, New York, NY 10021; ... «AJNR, gen 07»
