A 22 year old medical student presented with sudden onset of loss of consciousness with seizures. H/o recent long distance travel was present.[japi.org]
Although comprehensive genotyping of the RET proto-oncogene was not available at the time of this family s presentation,& .[neviso58.skyrock.com]
Heterochromia may be present secondary to diffuse darkly pigmented micropapillae on the iris surface in place of iris crypts. Epithelial congenital melanocytosis is a stationary lesion present at birth or early childhood.[entokey.com]
Tuberous sclerosis AD disorder with incomplete penetrance and variable presentation. Assoc with astrocytomas.[cram.com]
[…] of ossifying fibromyxoid tumor of the mandible: a case report. ( 17315811 ) Mollaoglu N....Uluoglu O. 2006 50 Ossifying fibromyxoid tumor of soft parts presenting as a scalp cyst. ( 16919031 ) Seykora J.T....Ioffreda M. 2006[malacards.org]
stature Causes List for Disproportionate tallstature List of possible causes of Disproportionate tallstature or similar symptoms may include: 2 Arthrogryposis, Distal, Type 9 (Disproportionate tallstature) Arthrogryposis (Disproportionate tallstature[familydiagnosis.com]
Disproportionate tallstature MedGen UID: 323048 • Concept ID: C1836996 • Finding A tall and slim body build with increased arm span to height ratio ( 1.05) and a reduced upper-to-lower segment ratio ( Hyperextensibility of the finger joints MedGen UID[ncbi.nlm.nih.gov]
It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.[ncbi.nlm.nih.gov]
Erythema infectiosium/Fifth disease (Parvovuris B19 - smallest DNA virus, SS linear, (-) Chorea, dementia, caudate degeneration Huntington's disease (CAG tri-nucleotide repeat) - AD inheritance, anticipation Chronic exercise intolerance with myalgia, fatigue[studyblue.com]
[…] daytime sleepiness Atrial fibrillation Pes cavus Abnormality of the cerebral white matter Skeletal dysplasia Distal muscle weakness Facial palsy Anxiety Proximal muscle weakness Rigidity Proportionate short stature Hyporeflexia Narcolepsy Areflexia Fatigue[mendelian.co]
[…] syndrom Broad and waxy casts Chronic renal failure Sickle Cell Disease MC osteomyelitis cause MC sepsis cause osteomyelitis: salmonella sepsis: S. pneumo Calculated serum osmolality (2*Na) (glucose/18) BUN/2.8 Systemic Sclerosis: symptoms Systemic: fatigue[flashcardbook.com]
Patient was managed with implantable cardiac defibrillator and since then he is asymptomatic. On follow up for a year we reported the similar episodic VT in his real brother due to ARVD.[japi.org]
It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.[ncbi.nlm.nih.gov]
Aortic regurgitation MedGen UID: 8153 • Concept ID: C0003504 • Disease or Syndrome An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.[ncbi.nlm.nih.gov]
ECG was suggestive of LVH, 2D echo revealed a mildly dilated left ventricle with presence of intracavity sinusoids suggestive of non compaction cardiomyopathy with moderate eccentric mitral regurgitation and mild tricuspid regurgitation.[japi.org]
[…] following symptoms: Uncommon Symptoms - Between 30% and 50% cases Dilatation Short stature Ventricular septal defect Glaucoma Stroke Abnormal vitreous humor morphology Abnormal facial shape Hypogonadism Muscle weakness Visual loss Hydrocephalus Mitral regurgitation[mendelian.co]
Sinoatrial Block OMIM:601352 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face OMIM:606242 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism OMIM:606772 Mental Retardation, Obesity, Mandibular Prognathism[informatics.jax.org]
[…] kinesigenic choreoathetosis Ehlers-Danlos syndrome, vascular type Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly Corneal dystrophy and perceptive deafness Spondylocostal dysostosis Dandy-Walker complex Pontocerebellar hypoplasia type 6 Prognathism[checkrare.com]
Mitralvalveprolapse MedGen UID: 7671 • Concept ID: C0026267 • Disease or Syndrome A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often[ncbi.nlm.nih.gov]
ValveProlapse 1 Multiple Endocrine Neoplasia , Type IIB Proteus Syndrome Stickler Syndrome Stickler Syndrome , Type I Wolf-Hirschhorn Syndrome X-Linked Intellectual Disability With Marfanoid Habitus • • • Back to: « Disproportionate tall stature Causes[familydiagnosis.com]
Diseases related with Cataract and Mitralvalveprolapse In the following list you will find some of the most common rare diseases related to Cataract and Mitralvalveprolapse that can help you solving undiagnosed cases.[mendelian.co]
It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.[ncbi.nlm.nih.gov]
Supraventricular tachycardia 2 members Supraventricular tachycardia is a heart disorder characterized by an abnormal fast heart rhythm.[rareshare.org]
Clinical examination revealed tachypnoea, tachycardia with normal blood pressure and only hepatomegaly on systemic examination. There is no obvious cellulitis or clinical findings to pinpoint the source of sepsis.[japi.org]
disease Short stature valvular heartdisease characteristic facies SimpsonGolabiBehmel syndrome, type 2 Skeletal dysplasia mental retardation Sketetal dysplasia coarse facies mental retardation Spastic diplegia, infantile type Spinal muscular atrophy[wikidoc.org]
Most common congenital retardation Retards with rocker bottom feet, small jaws, low set ears, clenched hands, prominent occiput and congenital heartdisease (VSD or valve defects) Edward's syndrome trisomy of chromosome 18 decreased AFP, estriol, and[cram.com]
It is often a symptomless condition but may be marked by varied symptoms (e.g. chestpain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.[ncbi.nlm.nih.gov]
Diagnosis of CAD was based on classical chestpain, ECG, echocardiography and/or CAG.[japi.org]
pain on exertion Angina (stable: moderate exertion; unstable: minimal exertion) Chestpain, pericardial effusion/friction rub, persistent fever following MI Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks after acute[memorize.com]
Chestpain, pericardial effusion (friction rub), persistent fever 2-3 weeks after MI Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis) Gower's sign (using arms to stand up) Duchenne muscular dystrophy - X linked recessive - dystrophin[studyblue.com]
It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.[ncbi.nlm.nih.gov]
Case Report : A 16 year old male patient presented to the emergency department with complaints of chest pain, breathlessness, cough, palpitations.[japi.org]
The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscleweakness.[ncbi.nlm.nih.gov]
weakness in boys Becker's muscle dystrophy -X-linked missense mutation Small, irregular red spots on buccal/lingual mucosa with blue-white centers Koplik spots -Measles ( Rubeola virus) Smooth, flat, moist, painless white lesions on genitals Condyloma[studyblue.com]
weakness in boys Becker's muscular dystrophy (X-link recessive missense mutation in dystrophin; less severe than Duchenne's) Small, irregular red spots on buccal/lingual mucosa with blue-white centers Koplik spots (measles; rubeola virus paramyxovirus[memorize.com]
[…] habitus ) is a constellation of symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that exceeds the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity[en.wikipedia.org]
Arthrogryposis multiplex congenita type 2B Arthrogryposis, distal, type 2E B Bd syndrome BenAriShuperMimouni syndrome BindewaldUlmerMuller syndrome Blepharophimosis telecanthus microstomia Blepharoptosis aortic anomaly BlethenWenickHawkins syndrome Body skin hyperlaxity[wikidoc.org]
Delay Cutis Laxa with or without Congenital Disorder of Glycosylation Cutis Laxa, Autosomal Recessive, Type IIA Cutis Laxa, Debre Type Cutis laxa, recessive type 2 Cyclophosphamide Teratogenic Agent D Del (2) (q37.1qter) Delayed speech facial asymmetry strabismus[wikidoc.org]
FAMILIAL PORENCEPHALY Is also known as t1p porencephaly, type 1, autosomal dominant adt1p hemiplegia, infantile, with porencephaly porencephaly, type 1 Related symptoms: Intellectual disability Seizures Global developmental delay Strabismus Cataract SOURCES[mendelian.co]
Following strabismus surgery these lesions may occur near the sutured margin of the conjunctiva.[entokey.com]
Other choristomas include ectopic lacrimal gland, simple and composed choristoma, and osseous choristoma. Ectopic lacrimal gland is the second most common choristoma affecting the epibulbar surface.[entokey.com]
[…] syndrome Arthrogryposis multiplex congenita pulmonary hypoplasia Arthrogryposis multiplex congenita type 2B Arthrogryposis, distal, type 2E B Bd syndrome BenAriShuperMimouni syndrome BindewaldUlmerMuller syndrome Blepharophimosis telecanthus microstomia Blepharoptosis[wikidoc.org]
Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008 ).[mendelian.co]
E disease Pfeiffer Mayer syndrome Thumb deformity Multiple pterygium syndrome lethal type Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy Popliteal pterygium syndrome Lowry Wood syndrome Jeune syndrome Blepharoptosis[checkrare.com]
hallucinations, extrapyramidal symptoms Huntingtons disease AD Affects caudate and putamen Age 35-44 - choreathetoid mvmt -behavioral disturbance -dementia Pseudodementia Major depression presenting as dementia (in elderly) Wernicke-Korsakoff Syndrome[flashcardbook.com]
Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrowface, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum.[mendelian.co]
If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.Nearsightedness usually begins in childhood or adolescence.[ncbi.nlm.nih.gov]
[…] fungoides Facial muscle spasm upon tapping Chvostek's sign (hypocalcemia) Fat, female, forty, and female Cholelithiasis (cholesterol gallstones: radiolucent due to calcifications) Charcot's triad of cholangitis: jaundice, fever, RUQ pain Fever, chills, headache[studyblue.com]
It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.[ncbi.nlm.nih.gov]
Definition CO2 concentration; Hyperventilation will decrease cerebral blood flow -- dizziness, weakness, blurred vision Term name artery perforated in each ulcer location: 1) Proximal lesser curvature 2) Distal lesser curvature 3) Proximal greater curvature[flashcardmachine.com]
A 54 year old Police Inspector presented with episodic dizziness and transient loss of consciousness lasting few seconds with immediate recovery. He had history of sustaining a burn of his left calf few days previously.[japi.org]
Commonly in workup of hematologic abnormalities- PNH, fetal rbcs in mothers blood, immunodeficiencies ELISA-direct Used to detect the presence of a specific antigen in pts blood sample.[studystack.com]
We are presenting this case to highlight the importance of early and meticulous workup of hypertension in young to rule out secondary causes like coarctation and renal artery stenosis so that complications like hypertensive emergency and degenerative[japi.org]
The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment.[books.google.com]
AIM: To assess clinical features, treatment and outcome of Hypothalamo-pituitary (HP) sarcoidosis and to determine whether HP is associated with a particular clinical phenotype of sarcoidosis. DESIGN:...[marseille-medical-genetics.org]
A delay in diagnosis and treatment may lead to corneal ulceration and perforation.[entokey.com]
Incresed cardiothoracic ratio, LVEF less than 50% non thrombolysed patients and Ant Wall MI are poor prognosis factors in long term morbidity and mortality of AMI.[japi.org]
Jan 2009 Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.[pubpdf.com]
BACKGROUND Neural tube defects (NTDs) are common human birth defects with a complex etiology. To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established... Birth Defects Res. Part A-Clin. Mol.[marseille-medical-genetics.org]
If Pseudomonas is not recognized as the etiologic agent, the conjunctival infection may lead to endophthalmitis and possible death.[entokey.com]
Name of condition Other names Etiology Type of heart defect Associated features Testing available Inheritance Structural defects Septal defects 2q37 Deletion syndrome Albright hereditary osteodystrophy-like syndrome, brachydactyly mental retardation syndrome[thoracickey.com]
Tags: Genetic screening / counselling, Immunology (including allergy), Epidemiology Genotype-phenotype correlations Source Type: research Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological[medworm.com]
Management of emergency care for patients with FBN1 gene mutation: epidemiological study. (ESHG - Barcelona, Mai 2016) A. Sorlin, A. Maruani, Y. Duffourd, P. Kuentz, M. Chevarin, J. St-Onge, T. Jouan, C. Thauvin-Robinet, L. Faivre, J. Rivière, P.[gad-bfc.org]
Sally L Dunwoodie , Kenro Kusumi , Olivier Pourquié , Olivier Tassy , Amaka C Offiah , Alberto S Cornier , Benjamin A Alman , Robert D Blank , Cathleen L Raggio , Ingrid Glurich , Peter D Turnpenny Vertebral malformations contribute substantially to the pathophysiology[pubpdf.com]
- Prevent repolymerization (anti-Cancer) -Cochicine - Prevent Inflammation and ingestion of urate crystals in gout Microtubule Associated Disease -Chediak-Higashi -Can't make LYST, microtubule dependednt cargo sorting.[brainscape.com]
Limit galactose in diet to prevent galactitiol accumulation Bloating, cramps, and osmotic diarrhea after eating pizza Lactase deficiency - can be AR or due to loss of brush border.[cram.com]
- total occlusion - metalloproteases increase the likelyhood of this event by decreasing the structural integrity of the plaque Term 3-7 days after a burst berry aneurysm (subarachnoid hemorrhage) person loses cortical function What type of drug can prevent[flashcardmachine.com]
[…] short stature, webbed neck, lymphedema Sudden swollen/painful big toe joint, tophi Gout/podagra (hyperuricemia) Swollen gums, mucosal bleeding, poor wound healing, spots on skin Scurvy ( vitamin C deficiency) -defective proline/lysine hydroxylation (prevents[studyblue.com]
[…] burgdorferi) Lucid interval after traumatic brain injury epidural hematoma (middle meningeal artery rupture) - biconcave disc, fast onset Male child, recurrent infections, no mature B cells Bruton's disease (X-linked agammaglobulinemia) defect in BTK to prevent[memorize.com]