Skeletal down syndrome. Medical search. Frequent questions

Yunis-Varon Syndrome (YVS), also known as cleidocranial dysplasia, is a rare genetic disorder characterized by skeletal and ectodermal abnormalities. (expresshealthcaremgmt.com)
Antenatal screening using ultrasonography can also detect the syndrome in infants with skeletal or cardiac abnormalities. (expresshealthcaremgmt.com)
Orthopedic specialists can address bone and skeletal abnormalities, while syndactyly can be treated with surgery. (expresshealthcaremgmt.com)
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). (bmj.com)
This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia). (nih.gov)
CHST3 -related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. (medlineplus.gov)
Recently, researchers have proposed the umbrella term CHST3 -related skeletal dysplasia to refer to bone and joint abnormalities resulting from mutations in the CHST3 gene. (medlineplus.gov)
A shortage of this enzyme disrupts the normal development of cartilage and bone, resulting in the abnormalities associated with CHST3 -related skeletal dysplasia. (medlineplus.gov)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). (nih.gov)
Keywords Patau syndrome trisomy 13 multiple congenital anomalies Pierre Robin syndrome metabolic abnormalities fluorescence in situ hybridization DNA-microarray This is a preview of subscription content, log in to check access. (symptoma.com)
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome. (medscape.com)
Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities. (nih.gov)
Skeletal abnormalities may include a curved spine, unusual prominence of the breastbone (pigeon chest), short stature, and narrowing of the spinal canal. (nih.gov)

The prevalence of CHST3 -related skeletal dysplasia is unknown. (medlineplus.gov)
As its name suggests, CHST3 -related skeletal dysplasia results from mutations in the CHST3 gene. (medlineplus.gov)
Superti-Furga A, Unger S. CHST3-Related Skeletal Dysplasia. (medlineplus.gov)
Follow this link to review classifications for Epilepsy-microcephaly-skeletal dysplasia syndrome in Orphanet. (nih.gov)
Skeletal disorders caused by type 1 mutations include Pfeiffer syndrome (PS) and osteoglophonic dysplasia, and disorders caused by type 2 mutations include Crouzon syndrome (CS), Apert syndrome (AS), and PS. (nih.gov)
Disorders caused by type 3 mutations include achondroplasia, hypochondroplasia, thanatophoric dysplasia (TD), severe achondroplasia with developmental delay and acanthosis nigricans, Crouzonodermoskeletal syndrome, and Muenke syndrome. (nih.gov)
The team at the Greenberg Center coordinates care with these skeletal dysplasia experts at Johns Hopkins. (hopkinsmedicine.org)
Spondyloepiphyseal dsplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked short stature, dysplasia of the large joints (hip) and flattened thoracic and lumber vertebral bodies. (nature.com)
Spondyloepiphyseal dysplasia tarda (SEDL) is a well-defined, X-linked primary skeletal dysplasia that predominantly affects the spinal vertebral bodies and epiphyses during skeletal growth. (nature.com)

Conductive deafness-ptosis-skeletal anomalies syndrome, also known as Jackson Barr syndrome is a rare presumably autosomal recessive genetic disorder characterized by conductive hearing loss associated with external auditory canal-middle ear atresia which aggravates during ear infections, ptosis, and skeletal anomalies which consist of clinodactyly of the fifth fingers, radial head dislocation and internal rotation of the hips). (wikipedia.org)
When Do Symptoms of Night blindness-skeletal anomalies-dysmorphism syndrome Begin? (nih.gov)
The diagnosis of Down syndrome may be carried out on the basis of clinical signs arising from the vast array of disturbances and anomalies found 1 . (bvsalud.org)
In the first hospital 78 congenital anomalies were recorded out of 19 572 births (4.00/1000), principally affecting the central nervous system (1.84/1000) and skeletal system (1.74/1000). (who.int)
Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease. (amrita.edu)
A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. (bvsalud.org)

Accessible Version: www.cdc.gov/pcd/issues/2022/21_0231.htm to estimate the effect of anthropometric risk factors on the preval- ence of metabolic syndrome. (cdc.gov)

Dantrolene stimulates muscle relaxation by modulating skeletal muscle contractions at sites beyond the myoneural junction and acting directly on muscle itself. (medscape.com)

Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. (nih.gov)
I am also interested in skeletal dysplasias. (cincinnatichildrens.org)
I'm a member of the Skeletal Dysplasias Center at Cincinnati Children's, where I collaborate with orthopaedics, radiology, and endocrinology to evaluate, diagnose and manage patients with these conditions. (cincinnatichildrens.org)

These skeletal disorders can be classified based on which FGFR is affected. (nih.gov)
Imaging plays a key role in the evaluation of these skeletal disorders. (nih.gov)
Malformation syndromes caused by disorders of cholesterol synthesis. (medscape.com)
Patients affected by the syndrome often suffer from chonic fatigue syndrome, and the majority has sleep disorders. (kumc.edu)
Related female-prevalent musculo-skeletal pain disorders include conditions such as osteoarthritis. (kumc.edu)
With a better understanding of what triggers pain syndromes, we will be armed to develop strategies to prevent and treat these disorders. (kumc.edu)
Children with Down syndrome are at increased risk of a number of musculoskeletal disorders. (bmj.com)
Consider participating in a clinical trial so clinicians and scientists can learn more about the Coffin-Lowry syndrome and related disorders. (nih.gov)

Medical professionals believe that Floating-Harbor syndrome is caused by heterozygous mutations in the SRCAP gene. (medicinenet.com)
In nearly all patients with Apert syndrome, the cause is 1 of 2 FGFR2 mutations involving amino acids (Ser252Trp, Pro253Arg). (medscape.com)
I also maintain an interest in Shashi Pena syndrome, described in 2016 to be caused by mutations in the ASXL2 gene. (cincinnatichildrens.org)
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (medscape.com)
Mutations to Taz cause dysfunctional mitochondria, resulting in exercise intolerance due to skeletal muscle weakness. (johnshopkins.edu)
Infantile liver failure syndrome type 1 (ILFS1) is a recently recognized autosomal recessive disorder caused by deleterious mutations in the leucyl-tRNA synthetase 1 gene (LARS1). (elsevierpure.com)
Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. (nih.gov)
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. (pediatriconcall.com)

This papers analysis an interesting syndrome that was observed in the skeletal: Overgrowth Syndrome. (assignbuster.com)
The traits define a unique condition that the researchers call 'CHD8 overgrowth syndrome. (spectrumnews.org)
The researchers have so far noted the effects of CHD8 overgrowth syndrome on only the skeletal system, though Graham says head circumference usually tracks with brain size. (spectrumnews.org)

From chronic pain arising from disease, such as diabetes or cancer, to pain syndromes with no associated pathology, such as fibromyalgia, migraine and chronic pelvic pain syndromes, our goal is to understand how the affected tissues and brain communicate, or more importantly, are having the wrong conversation. (kumc.edu)
There is mounting evidence that these pain syndromes are rooted deeply in the biology of the nervous system. (kumc.edu)
Some tissues that are affected in female pain syndromes have been shown to have greater than normal numbers of nerves. (kumc.edu)

The signs and symptoms of Marfan syndrome can vary greatly, even among members of the same family, because the disorder can affect so many different areas of the body. (mayoclinic.org)
The prognosis of Floating-Harbor syndrome is typically poor due to the severity of symptoms. (medicinenet.com)
What are the signs and symptoms of Floating-Harbor syndrome? (medicinenet.com)
Intersection syndrome tends to occur at a younger age than de Quervain tenosynovitis, except in peripartum women, and patients with intersection syndrome tend to present with a much shorter duration of symptoms. (medscape.com)
Turner syndrome can cause a wide variety of symptoms that affect a range of organs, including the heart, eyes, ears, bones, and kidneys. (childrenshospital.org)
What are the symptoms of Turner syndrome? (childrenshospital.org)
The symptoms of Turner syndrome can vary from girl to girl, depending on how much of the X chromosome is missing and which part is missing. (childrenshospital.org)
Due to a wide variability in symptoms, some girls with Turner syndrome may not be diagnosed until the teen years or later. (childrenshospital.org)
It differs from person to person and even two people in the same family with Alagille syndrome can have different features and symptoms. (childliverdisease.org)
When Do Symptoms of Cole-Carpenter syndrome Begin? (nih.gov)

The increased attention of anthropological and archeological research towards PalePathological studies has significantly lowered the focus and examination of various skeletal samples as well as to evaluate the presence of numerous diseases that afflicted ancient populations. (assignbuster.com)

It was found that, while younger patients (12 years 3 months) displayed bone and skeletal growth retardation, chronologically older subjects (14 years) had their development accelerated. (bvsalud.org)

Skeletal muscle mass was negatively associated with metabolic syndrome prevalence in previous cross-sectional studies. (biomedcentral.com)
The aim of this study was to investigate the impact of baseline skeletal muscle mass and changes in skeletal muscle mass over time on the development of metabolic syndrome in a large population-based 7-year cohort study. (biomedcentral.com)
Using Cox regression models, hazard ratio for developing metabolic syndrome associated with SMI values at baseline or changes of SMI over a year was analyzed. (biomedcentral.com)
During 7 years of follow-up, 20.1% of subjects developed metabolic syndrome. (biomedcentral.com)
Compared to the lowest sex-specific SMI tertile at baseline, the highest sex-specific SMI tertile showed a significant inverse association with metabolic syndrome risk (adjusted hazard ratio [AHR] = 0.61, 95% confidence interval [CI] 0.54-0.68). (biomedcentral.com)
An increase in relative skeletal muscle mass over time has a potential preventive effect on developing metabolic syndrome, independently of baseline skeletal muscle mass and glycometabolic parameters. (biomedcentral.com)
Estimates indicate that 50 million Americans had metabolic syndrome in 1990 and that number increased to 64 million in 2000. (biomedcentral.com)
Because skeletal muscle is the major site of insulin-mediated glucose utilization (up to 80% in the postprandial state), losses in skeletal muscle mass may lead to metabolic impairments [ 12 ]. (biomedcentral.com)
A further longitudinal study is needed to elucidate the casual relationship between low muscle mass and metabolic syndrome incidence across the full age range of the population, beyond the sarcopenia context. (biomedcentral.com)
Furthermore, to date, no studies have investigated the relationship between changes in skeletal muscle mass over time and metabolic syndrome development. (biomedcentral.com)
Therefore, we investigated whether baseline skeletal muscle mass and its changes over time have independent associations with metabolic syndrome development in a large 7-year longitudinal study. (biomedcentral.com)
Administration of GW501516 to mice fed a high-fat diet ameliorated diet-induced obesity and insulin resistance, an effect accompanied by enhanced metabolic rate and fatty acid β-oxidation, proliferation of mitochondria, and a marked reduction of lipid droplets in skeletal muscles. (elsevierpure.com)
The objective of this study was to evaluate whether postnatal hyperoxia exposure in rats could recapitulate the skeletal and metabolic phenotype of premature birth, and to characterize the subcellular metabolic changes associated with postnatal hyperoxia exposure, with a secondary aim to evaluate sex differences in this model. (frontiersin.org)
Given that young adults born premature also demonstrate skeletal muscle dysfunction, future studies are merited to determine whether this dysfunction as well as reduced aerobic capacity is due to reduced mitochondrial oxidative capacity and metabolic dysfunction. (frontiersin.org)
Despite the mounting evidence of both skeletal muscle and glucose handling impairments after premature birth, the specific skeletal muscle metabolic alterations underlying these physiologic changes in preterm born adults have not been well-identified. (frontiersin.org)
Insulin resistance underlies a constellation of adverse metabolic and physiological changes (the insulin resistance syndrome) which is a strong risk factor for development of type 2 diabetes and CHD. (cambridge.org)
Risk Factors and Metabolic Syndrome Among Adults in India: A We searched databases PubMed Central, EMBASE, MEDLINE, Systematic Review and Meta-Analysis of Observational Studies. (cdc.gov)
Overweight and obese adults have about 5 times higher odds of having ation in the magnitude or direction of outcome, indicating the lack metabolic syndrome than adults with normal or low body weight. (cdc.gov)
Several studies have explored the effect of anthropometric risk ing central obesity, atherogenic dyslipidemia (ie, low high-density factors on metabolic syndrome. (cdc.gov)
However, no systematic effort has lipoprotein cholesterol [HDL-C], elevated triglycerides, and apoli- explored the effect of overweight and obesity on the prevalence of poprotein B-containing lipoproteins), elevated blood pressure, el- metabolic syndrome in India. (cdc.gov)
Metabolic syndrome recently emerged as a significant anthropometric factors and metabolic syndrome. (cdc.gov)
Hence, we under- and growing public health challenge worldwide resulting from took our meta-analysis to estimate the effect of anthropometric rapid urbanization, excessive energy intake, developing obesity, risk factors on the prevalence of metabolic syndrome to inform re- and sedentary lifestyle habits (2). (cdc.gov)

Many of these features overlap those previously found in other malformation syndromes. (bmj.com)

Accordingly, GW501516 treatment induced fatty acid β-oxidation in L6 myotubes as well as in mouse skeletal muscles. (elsevierpure.com)
Accumulation of triacylglycerol in skeletal muscles and in liver is associated with insulin resistance. (cambridge.org)

Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. (mayoclinic.org)
Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. (mayoclinic.org)
In about 25% of the people who have Marfan syndrome, the abnormal gene comes from neither parent. (mayoclinic.org)
Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. (medscape.com)
CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation. (medscape.com)
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. (medscape.com)
Similar PPARδ-mediated gene activation was observed in the skeletal muscle of GW501516-treated mice. (elsevierpure.com)
More than nine out of ten people with Alagille syndrome have a mutation (change) in a gene called JAG1. (childliverdisease.org)
We have two copies of each gene in our body but only one of the NOTCH2 or JAG1 genes needs to be affected to cause Alagille syndrome. (childliverdisease.org)
In four out of ten cases, the gene which causes Alagille syndrome has been passed down from a parent to their child. (childliverdisease.org)
Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A). (nih.gov)

In present study we assessed the probable effect of insulin resistance on SNCA expression in muscle C2C12 cells and also skeletal muscle tissues of type 2 diabetic mice. (biomedcentral.com)
Insulin resistance (IR) as the main hyperglycemic process in non-insulin dependent diabetes mellitus (NIDDM) is observed in many tissues such as adipose and skeletal muscle [ 2 ]. (biomedcentral.com)
These data suggest that PPARδ is pivotal to control the program for fatty acid oxidation in the skeletal muscle, thereby ameliorating obesity and insulin resistance through its activation in obese animals. (elsevierpure.com)

Background Musculoskeletal complications of Down syndrome (DS) are common but infrequently reported. (bmj.com)
Musculoskeletal assessment should be part of the normal annual health surveillance programme for all children with Down syndrome. (bmj.com)

Down syndrome, also known as Trisomy 21, is a very common genetic alteration, which has very apparent clinical, dental and facial characteristics and a wide range of systemic manifestations. (bvsalud.org)
This article, therefore, aimed to conduct a brief review of some of the features of Down syndrome that play an important role in establishing correct clinical diagnosis. (bvsalud.org)
We also sought to make a comparative analysis of the skeletal and dental patterns of two patients with Down syndrome through clinical evaluation and using panoramic and hand and wrist radiographs. (bvsalud.org)
Amongst the congenital defects which have aroused most clinical and scientific interest is Down syndrome, whose most common manifestations were first described in 1866 by John Langdon Down, for whom the condition is now known 1 . (bvsalud.org)
However, in all these cases, the mothers and children were not affected in the same way, indicating a varied clinical manifestation of the syndrome. (medicinenet.com)
Sato J, Ishii Y, Noguchi H. Clinical and ultrasound features in patients with intersection syndrome or de Quervain's disease. (medscape.com)
CHILD syndrome: clinical picture and diagnostic procedures. (medscape.com)
Those are relatively nonspecific findings in and of themselves, but it's the combination that gives rise to a specific set of clinical features that we might call CHD8-related syndrome," Graham says. (spectrumnews.org)

Draghi F, Bortolotto C. Intersection syndrome: ultrasound imaging. (medscape.com)
Ultrasound and MRI are the two imaging modalities that best lend themselves to investigating entrapment syndromes. (radiopaedia.org)

Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. (nih.gov)

Diagnosis and Treatment of Myelodysplastic Syndromes: A Review. (nih.gov)

Happle R. Ptychotropism as a cutaneous feature of the CHILD syndrome. (medscape.com)
Neurofibromatosis is a neurocutaneous syndrome (a syndrome with neurologic and cutaneous manifestations). (msdmanuals.com)

Extended MRI findings of intersection syndrome. (medscape.com)
Knape RM, Gandhi KB, Tuli SY, Khuddus N. Optic Nerve Findings in CHILD Syndrome. (medscape.com)

al-Gazali LI, Sztriha L, Dawodu A, Varady E, Bakir M, Khdir A, Johansen J. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. (pediatriconcall.com)

It is sometimes known as autosomal recessive Larsen syndrome based on its similarity to another skeletal disorder called Larsen syndrome. (medlineplus.gov)
Marfan syndrome is an inherited disorder that affects connective tissue - the fibers that support and anchor your organs and other structures in your body. (mayoclinic.org)
Marfan syndrome is a genetic disorder that causes people to have unusually long arms, legs and fingers. (mayoclinic.org)
Because it's a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder. (mayoclinic.org)
Pierre Robin syndrome is a developmental disorder characterized by micrognathia, glossoptosis and cleft palate. (symptoma.com)
The discovered extra long bones were a clear indication of a disorder that may be linked to various syndromes that result to excessive growth in many growth indicators. (assignbuster.com)
Turner syndrome is a genetic disorder that affects females. (childrenshospital.org)
It is a very rare syndrome characterised by short ribs, various gastrointestinal, cranial structural abnormality, post-axial polydactyly, cystic renal disease, heart and laterality disorder, ambiguous genitalia. (pediatriconcall.com)

Radial sensory neuritis (Wartenberg syndrome) may also present as distal radial forearm pain. (medscape.com)
Browne J, Helms CA. Intersection syndrome of the forearm. (medscape.com)
Pathologic anatomy of the forearm: intersection syndrome. (medscape.com)
de Lima JE, Kim HJ, Albertotti F, Resnick D. Intersection syndrome: MR imaging with anatomic comparison of the distal forearm. (medscape.com)
MRI features of intersection syndrome of the forearm. (medscape.com)
one can distinguish the two by examining for numbness of the forearm, which does not occur in carpal tunnel syndrome and ask about nocturnal exacerbation, which is atypical in PTS. (radiopaedia.org)

In certain families with cases of Floating-Harbor syndrome, the condition is passed down to the family offspring via autosomal dominant inheritance. (medicinenet.com)

Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. (bmj.com)
However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely. (bmj.com)
Pierre Robin syndrome may also be associated with some genitourinary defects like hydrocele , hydronephrosis and undescended testes . (symptoma.com)

Desai & Flanagan 2 stated that Down syndrome is also known as Trisomy 21 because approximately 95% of affected individuals have an extra chromosome 21, thus having 47 chromosomes in total. (bvsalud.org)

The study appeared in the American Journal of Medical Genetics Part C: Seminars in Medical Genetics as part of a special issue on overgrowth syndromes, including the autism-related Sotos syndrome . (spectrumnews.org)

Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. (mayoclinic.org)
People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. (mayoclinic.org)
The damage caused by Marfan syndrome can be mild or severe. (mayoclinic.org)
Many people with Marfan syndrome eventually require preventive surgery to repair the aorta. (mayoclinic.org)
People who have Marfan syndrome typically have especially long fingers. (mayoclinic.org)
If you think that you or your child may have Marfan syndrome, talk to your doctor or pediatrician. (mayoclinic.org)
Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. (mayoclinic.org)
It was first described in 2005 and has many shared characteristics with Marfan syndrome. (rarediseases.org)

Future research will further examine alternative mechanisms of dietary supplemental LA on improving skeletal muscle contractile dysfunction in TazKD mice. (johnshopkins.edu)

Floating-Harbor syndrome affects both sexes, but it more commonly affects women. (medicinenet.com)
In contrast, intersection syndrome more often affects men and involves the dominant hand. (medscape.com)
Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. (nih.gov)
Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). (johnshopkins.edu)
Alagille syndrome affects around one in every 30,000 live births. (childliverdisease.org)

Furthermore, skeletal muscle is considered to be an endocrine organ because it releases myokines that mediate crosstalk between muscle, adipose tissue, the liver, brain, and other organs in autocrine and paracrine fashions [ 13 ]. (biomedcentral.com)

A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. (medscape.com)

These genes are involved in many different systems in the body, which is why Alagille syndrome can have such a wide variety of effects. (childliverdisease.org)
A number of these loci contain genes implicated in structure and function of skeletal muscle fibres (ACTG1), neuronal maintenance and signal transduction (PEX14, TGFA, SYT1), or monogenic syndromes with involvement of psychomotor impairment (PEX14, LRPPRC and KANSL1). (lu.se)

The most important diagnostic 'tools' are a three-generation family history (suggestive of X-linked inheritance) and radiographic skeletal survey. (nature.com)

Notably, the skeletal remains of an abnormally tall individual were discovered from a small cemetery which was dated back to the Roman imperial age was discovered in Fidenae. (assignbuster.com)

Hayem G et al (1999) SAPHO syndrome: a long-term follow-up study of 120 cases. (springer.com)

We have incidentally noted a semicircular morphology in vertebral body imaging in several cases of SAPHO syndrome with vertebral involvement. (ajnr.org)
SAPHO syndrome should be included in the differential diagnosis in a patient with a curvilinear or semicircular pattern of vertebral involvement, contiguous vertebral body involvement, and absence of intervertebral disc edema and enhancement. (ajnr.org)

Compared to control rats, male rats exposed to 14 days of postnatal hyperoxia then aged to 1 year demonstrated higher skeletal muscle fatigability, lower muscle mitochondrial oxidative capacity, more mitochondrial damage, and higher glycolytic enzyme expression. (frontiersin.org)

De Mari 6 stated that, based on data available at the time, the life expectancy of Down syndrome patients leaped from 10 years in the 1920s to 60 years, which is relatively close to that of the Brazilian population in general. (bvsalud.org)

An autopsy showed fulminant hepatitis-like hepatocellular injury and fibrogenesis in the liver and a lack of uniformity in skeletal muscle, accompanied by the disruption of striated muscle fibers. (elsevierpure.com)
In addition to liver disease, heart problems are one of the most common features of Alagille syndrome. (childliverdisease.org)

CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. (medscape.com)

Anatomy5

Diseases35

Chemicals and Drugs7

Analytical, Diagnostic and Therapeutic Techniques and Equipment14

Psychiatry and Psychology4

Phenomena and Processes14

Information Science1

Named Groups1

Health Care6

Abnormalities13

Dysplasia9

ANOMALIES6

20221

Modulating skeletal muscle1

Dysplasias3

Disorders8

Mutations8

Overgrowth Syndrome3

Pain Syndromes3

Symptoms10

Various skeletal1

Bone and skeletal1

Metabolic22

Malformation1

Muscles2

Gene11

Insulin resistance3

Musculoskeletal2

Clinical8

Ultrasound2

Craniofacial1

Diagnosis and Treatment1

Cutaneous2

Findings2

Dysmorphic1

Disorder8

Forearm6

Autosomal dominant1

Defects3

Trisomy1

Genetics1

Marfan8

Contractile dysfunction1

Affects5

Adipose1

Mutation1

Genes2

Inheritance1

Abnormally1

19991

Vertebral2

Postnatal1

Life expectancy1

Liver2

Lesions1