fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone.
[humpath.com]
fragility, and long bone bowing.
[genome.jp]
Abstract Gnathodiaphyseal dysplasia (GDD) is an orthopedic condition involving cemento-osseous lesions of jaw bones, sclerosis, bowing of tubular bones, and overall bone fragility
[ncbi.nlm.nih.gov]
[…] mineral density Increased bone density 0011001 Increased susceptibility to fractures Abnormal susceptibility to fractures Bone fragility Frequent broken bones Increased bone
[rarediseases.info.nih.gov]
fragility, nanism and partial agenesis of hand and foot phalanges ( 5, 6 ).
[scielo.br]
fragility, nanism and partial agenesis of hand and foot phalanges (5,6).
[rb.org.br]
Cole DE et al. (1983) Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia
[moldiag.com]
Case presentation of a 9-year old girl with precocious puberty, fragile bones, and dermal pigmentation. V. Gaupp: Pubertas praecox bei Osteo-dystrophia fibrosa.
[whonamedit.com]
This disease destroys bone and replaces it with soft, stringy tissue that is more fragile than bone and prone to break.
[chop.edu]
Although cortisone therapy in Duchenne muscular dystrophy does not seem to increase bone fragility or the general risk of fractures, it does increase the risk of vertebral
[socialstyrelsen.se]
Long‐bone fractures were documented in 25% of boys in both groups, with no difference between groups.
[doi.org]
Three boys in the deflazacort‐treated group developed fragility vertebral fractures compared with none in the non‐treated group.
[doi.org]
In conclusion, hemizygous mutations in PLS3 are associated with osteoporosis and bone fragility in childhood, but in contrast to bone fragility caused by mutations in collagen
[ncbi.nlm.nih.gov]
Fractures associated with bone fragility are frequent, particularly in elderly women.
[english.prescrire.org]
Mutations in PLS3 have been identified as a cause of bone fragility in children, but the bone phenotype associated with PLS3 mutations has not been reported in detail.
[ncbi.nlm.nih.gov]
The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility, and hearing loss.
[radiopaedia.org]
Osteoporosis is the most common type of bone disease in which bones become fragile and susceptible to fracture.
[asianscientist.com]
In some patients, corticosteroids also reduce gonadal function, which may further contribute to bone fragility.
[nps.org.au]
These findings provide proof-of-concept that NBAS mutations have mechanistic effects in bone, and that NBAS variants are a novel cause of bone fragility, which is distinguishable
[ncbi.nlm.nih.gov]
KEYWORDS: Atypical fracture; Blue sclerae; Bone fragility; Collagen; Zebra sign
[ncbi.nlm.nih.gov]
In conclusion, these observations show that homozygous mutations in SPARC can give rise to severe bone fragility in humans.
[ncbi.nlm.nih.gov]
"Brack syndrome: a rare combination of bone fragility and multiple congenital joint contractures".
[en.wikipedia.org]
BACKGROUND: Osteogenesis Imperfecta (OI) (OMIM %259450) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging
[ncbi.nlm.nih.gov]
Here we describe five families with OI-like bone fragility in association with congenital contractures who all had FKBP10 mutations.
[ncbi.nlm.nih.gov]
OMIM : 58 Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass.
[malacards.org]
[…] type 5 Disease definition Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone
[orpha.net]
Individuals with OI are characterized phenotypically with bone fragility and low bone mass.
[themedicalbiochemistrypage.org]
Definition A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent
[uniprot.org]
Orpha Number: 2050 Definition An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple
[malacards.org]
[…] osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera
[orpha.net]
Disease definition Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility
[orpha.net]
low bone mass and susceptibility to bone fractures.
[orpha.net]
[…] forms of OI, hypophosphatasia, and other bone fragility phenotypes that overlap with OI.
[uwcpdx.org]
Blue sclerae, bone fragility, average stature Type II – Perinatal lethal type.
[clinicaladvisor.com]
Abstract Osteogenesis imperfecta (OI) is a group of genetic heterogeneous connective tissue disorders characterized by increased bone fragility and susceptibility to fractures
[zora.uzh.ch]
OMIM : 57 Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass.
[malacards.org]
[…] forms of OI, hypophosphatasia, and other bone fragility phenotypes that overlap with OI.
[uwcpdx.org]
Bone Density Bone Fragility Osteogenesis Imperfecta Short Stature Spine Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please
[jmg.bmj.com]
OMIM : 57 Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass.
[malacards.org]
Osteogenesis imperfecta type 7 Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass.
[ncbi.nlm.nih.gov]
bone fragility and susceptibility to fractures after minimal trauma.
[malacards.org]
Disease definition Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility
[orpha.net]
low bone mass and susceptibility to bone fractures.
[orpha.net]
To report examples of disorders characterized by bone fragility, calvarial and/or gnathic fibro-osseous lesions, and metadiaphyseal undermodeling of the tubular bones.
[link.springer.com]
CONCLUSION: These patients may represent a group of fragile bone syndromes which differ from osteogenesis imperfecta.
[ncbi.nlm.nih.gov]
bone fragility and long bone bowing.
[docslide.net]
Summary of "Cortical- Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease."
[bioportfolio.com]
Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily.
[ghr.nlm.nih.gov]
Cortical-bone fragility is a common feature in osteoporosis that is linked to nonvertebral fractures. Regulation of cortical-bone homeostasis has proved elusive.
[bioportfolio.com]
Osteopenia and osteoporosis (porous bone) are both terms which help to define the continuum of loss of bone density which leads to bone fragility and an increased risk of
[globenewswire.com]
Osteopenia found in those whose parent(s) have fractured a hip fracture could be an early red flag of future bone fragility.
[betterbones.com]
Osteoporosis leaves bones fragile, which can mean that even minor falls may cause bone fractures.
[medicalnewstoday.com]
[…] development disorder Bone dysplasia Azouz type Bone dysplasia corpus callosum agenesis Bone dysplasia lethal Holmgren type Bone dysplasia Moore type Bone fragility craniosynostosis
[bioreference.net]
Bone fragility craniosynostosis proptosis hydrocephalus[?] Bone marrow failure neurologic abnormalities[?] Bone marrow failure[?] Bone neoplasms[?]
[encyclopedia.kids.net.au]
Bloom syndrome Blount's disease Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus Bo Bod-Boo BOD syndrome Boder syndrome Body dysmorphic disorder Boil Bone
[bionity.com]
Insights into material and structural basis of bone fragility from diseases associated with fractures: how determinants of the biomechanical properties of bone are compromised
[ncbi.nlm.nih.gov]
View Article PubMed Google Scholar Chavassieux P, Seeman E, Delmas PD: Insights into material and structural basis of bone fragility from diseases associated with fractures
[dx.doi.org]
Bone fragility and a history of frequent fractures may suggest the possibility of diagnosing osteogenesis imperfecta, although the fractures are much more severe with other
[ncbi.nlm.nih.gov]
[…] ned as “a metabolic bone disease characterized by low bone mass and microarchitectural deterioration of bone tissue leading to enhanced bone fragility and a consequent increase
[books.google.de]
الصفحة 225 - a metabolic bone disease characterized by low bone mass and microarchitectural deterioration of the skeleton, leading to enhanced bone fragility and a consequent
[books.google.com]
Osteoporosis is characterized by low bone mass and microarchitectural deterioration of bone tissue with a subsequent increase in bone fragility and susceptibility to fractures
[sens.org]
Ops OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG Osteogenesis imperfecta ocular form Osteoporosis pseudoglioma syndrome Pseudoglioma with bone
[wikidata.org]
Abstract The osteoporosis-pseudoglioma syndrome (MIM 259770) is a rare autosomal recessive disorder in which bone fragility and frequent fractures are associated with serious
[ncbi.nlm.nih.gov]
fragility or osteoporosis recognized by young adulthood.
[unboundmedicine.com]
The first case was in 1897 of a male who was described by Bruck as having bone fragility and bone contractures.
[en.wikipedia.org]
Clinical description Features include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral
[orpha.net]
fragility Frequent broken bones Increased bone fragility Increased tendency to fractures [ more ] 0002659 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness
[rarediseases.info.nih.gov]
esp. femurs, proximal tibias and fibula May develop LLD or stress fracture due to increased bone fragility Treatment Nothing specific, but may require corrective osteotomy
[orthopaedicsone.com]
fragility Often intrauterine or neonatal death III (Rare) Congenita (tarda) Autosomal recessive Sclera bluish at birth but normalises Sever bone fragility and deformity Smallest
[flinders.edu.au]
Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily.
[icdlist.com]
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
[disorders.eyes.arizona.edu]
@article{Munns2015HomozygosityFF, title={Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects
[semanticscholar.org]
fragility, cataracts, and hearing defects.
[genome.jp]
especially in long bones, leading to obliteration of marrow spaces and to anemia with myeloid metaplasia and hepatosplenomegaly beginning in infancy, to bone fragility,
[medical-dictionary.thefreedictionary.com]
bones’) but increased fragility (‘osteosclerosis fragilis’).
[medical-dictionary.thefreedictionary.com]
It is hereditary disease of bone Osteoporosis and Osteopetrosis In osteporosis Bones are fragile and brittle It is often fatal if it develops during intraurterine life.
[slideplayer.com]
Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all tissues, leading to hemolytic anemia, splenomegaly, erythrodontia, bone fragility
[ncbi.nlm.nih.gov]
The consequences of chronic haemolysis are splenomegaly, reactive erythroid hyperplasia, erythrodontia, bone fragility, extreme photosensitivity and photomutilation.
[ncbi.nlm.nih.gov]
Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all tissues leading to hemolytic anemia, splenomegaly, erythrodontia, bone fragility
[ncbi.nlm.nih.gov]
Fragility 516 Multiple Radiolucent Defects Lytic Lesions 527 Osteolyses 538 Delayed Bone Age 548 Asymmetry Hemihypertrophy Hemiatrophy 562 Aarskog Syndrome 576 Achondroplasia
[books.google.es]
Affected people are clinically normal, apart from genu valgum, although scoliosis and bone fragility occasionally occur.
[merckmanuals.com]
PMID: 9605592 A case of autosomal recessive form of cranio-metaphyseal dysplasia with unusual features and with bone fragility.
[pubmed.ncbi.nlm.nih.gov]
fragility and low bone mass.
[ncbi.nlm.nih.gov]
The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility, and hearing loss.
[radiopaedia.org]
Brittle bone disease is a disorder that results in fragile bones that break easily.
[healthline.com]
fragility and susceptibility to fractures.
[pedsinreview.aappublications.org]
Osteoporosis Osteoporosis is a disease that thins and weakens the bones. Your bones become fragile and break easily, especially the bones in the hip, spine, and wrist.
[icdlist.com]
The more bone mass we build in childhood and youth, the less likely we are to have fractures caused by fragile bones later in life.
[melpomene.org]
