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Bardet Biedl syndrome Radiology

Six cases of Bardet-Biedl syndrome are presented. Common findings in this syndrome include mental retardation, pigmentary retinopathy, obesity, and hypogonadism. Uremia is stated to be the cause of... Urographic Findings in the Bardet-Biedl Syndrome | Radiology. Login to your account Bardet-Biedl syndrome : Imaging Findings Section. Paediatric radiology . Case Type. Clinical Cases Authors. Galanis S, Avramidis O, Stergioulas L, Palladas P, Petridis A Connected authors. Stavros Galanis GREECE Patient. 12 years, female Download as.

Bardet-Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such Bardet-Biedl Syndrome (BBS, OMIM 209900) is a rare, hereditary, ciliopathy characterized by juvenile obesity, hypogonadism, polydactyly, retinal dystrophy, mental retardation, and renal abnormalities. Hypertension and/or diabetes commonly occur (1,2)

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy ; extra fingers or toes ( polydactyly ); truncal obesity; decreased function of the male gonads ( hypogonadism ); kidney abnormalities; and learning difficulties. [1

Urographic Findings in the Bardet-Biedl Syndrome Radiology

  1. Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult
  2. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and.
  3. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8) Bardet-Biedl syndrome - Conditions - GTR - NCB
  4. Bardet-Biedl syndrome (BBS) is an inherited genetic condition that affects approximately 1 in 100,000 babies born. It is named after the four doctors who described the symptoms of the syndrome. Genes on chromosomes 16, 11, 3, 15, and 20 have been associated with BBS, but what these genes do and their roles in causing BBS is not yet completely known
  5. Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present
  6. Bardet-Biedl syndrome is usually characterized by retinitis pigmentosa, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism. In this syndrome renal abnormalities appear to have a high frequency, which is also the main cause of morbidity and mortality, along with male hypogenitalism and female genitourinary malformations
  7. Bardet-Biedl syndrome (BBS) is a debilitating and life threatening association of obesity, blindness and renal failure. BBS gives rise to several problems some of which are life threatening and therefore requires the input of many medical specialist and several non-clinical services

PDF | p>The Bardet-Biedl syndrome is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It... | Find, read and cite all the research you. Bardet-Biedl syndrome Mymensingh Med J. 2009 Jan;18(1):80-3. Authors M Habibullah 1 , A A Mohiuddin. Affiliation 1 Department of Ophthalmology, Mymensingh Medical College and Hospital, Mymensingh, Bangladesh. PMID: 19182756 Abstract A young boy of 9 years hailing from Fulpur, Mymensingh was admitted in the department of Ophthalmology. In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet. 2012 Apr;20(4):420-42. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet -Biedl syndrome: results of a population survey. J Med Genet. 1999 36:437-446. Farag TI, Teebi AS: High incidence of Bardet Biedl syndrome among the Bedouin In Bardet-Biedl syndrome (BBS), mutations that affect the function of primary cilia cause retinal degeneration, obesity, kidney failure, and cognitive impairment. The cognitive impairment has yet to be explained, but this study shows that loss of BBS proteins causes synaptic aberrations in principal neurons and can be partially rescued by aerobic exercise Bardet-Biedl syndrome (BBS) (OMIM 209900) is a heterogeneous autosomal recessive disorder characterized by clinical findings that include obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and learning disabilities. BBS is genetically heterogeneous. Seventeen genes are associated with BBS with more BBS genes yet to be identified

Bardet-Biedl syndrome : Imaging Findings Eurora

Bardet-Biedl syndrome (BBS) is a genetic condition that impacts multiple body systems. It is classically defined by six features. Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen. They often also suffer from intellectual impairments. Commonly, the kidneys, eyes and function of the. Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome Bardet-Biedl syndrome (BBS) is a multisystem disorder characterized by obesity, retinal degeneration, polydactyly, gonadal, and renal malformations, and behavioral and developmental problems, with a population incidence of 1 in 14,000 to 1 in 16,000. Initially, segregation studies suggested that the inheritance pattern was autosomal recessive In 1866 John Laurence and Robert Moon described a family of four siblings with retinal dystrophy, obesity, spastic paraparesis and cognitive deficit. George Bardet and Artur Biedl later (1920s) reported separately on further similarly affected individuals. Bardet-Biedl syndrome (BBS) is now the standard term in common usage

Bardet-Biedl Syndrome Subject Areas on Research. Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome. The historically associated Laurence-Moon syndrome includes spastic paraparesis but not the obesity. The Bardet‐Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former Laurence‐Moon‐Biedl‐Bardet syndrome

Bardet-Biedl syndrome - Wikipedi

Bardet-Biedl syndrome (BBS) is a debilitating and life threatening association of obesity, blindness and renal failure. BBS gives rise to several problems some of which are life threatening and therefore requires the input of many medical specialist and several non-clinical services. Affected families often feel isolated with fe About Patcor. Learn more about Patcor and the team, the leader in carport designs, canopies, shade carports and auto accessories From a handful of uncloned genetic loci 6 years ago, great strides have been made in understanding the genetic and molecular aetiology of Bardet-Biedl syndrome (BBS), a rare pleiotropic disorder characterised by a multitude of symptoms, including obesity, retinal degeneration and cystic kidneys. Presently, 11 BBS genes have been cloned, with the likelihood that yet more BBS genes remain.

Bardet-Biedl Syndrome: A Study of the Renal and

Summary Epidemiology Its prevalence in Europe is estimated at between 1/125,000 and 1/175,000. Clinical description This disorder is characterized by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset BBS5, Bardet-Biedl syndrome 5 Vertebrate Orthologs 10 Human Ortholog BBS5, Bardet-Biedl syndrome 5 Orthology source: HomoloGene, HGNC Links HGNC:970. NCBI Gene ID: 129880. neXtProt AC: NX_Q8N3I7. UniProt: Q8N3I7. Chr Location.

Bardet-Biedl Syndrome (BBS), BBS1-Related is an inherited disease that affects many different parts of the body. This condition generally causes vision problems, mild obesity, extra fingers or toes, genital and kidney abnormalities, and learning difficulties. Vision problems result from degeneration of the cone cells of the retina Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystemic genetic disorder characterised by six major defects including obesity, learning disability, renal anomalies, polydactyly, retinal degeneration and hypogenitalism

Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. Acronym. BBS1. Keywords › Bardet-Biedl syndrome › Obesity. Related website Eponym and classification. The syndrome is named after Georges Bardet and Arthur Biedl. Two forms have been identified: Bardet-Biedl syndrome 1 (BBS1) has no linkage to chromosome 16 Bardet-Biedl syndrome 2 (BBS2) is mapped to markers on chromosome 16.The first known case was reported by Laurence and Moon in 1866 at the Ophthalmic Hospital in South London Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina. Bardet-Biedl Syndrome. Home Information Resources Contact Information All about Bardet-Biedl Syndrome. continue. Powered by Create your own unique website with customizable templates. Get Started. Home Information Resources Contact.

[PDF] Bardet-Biedl syndrome Semantic Schola

Citation: Emad Badawy ,Zainab Harb , Bardet-biedl syndrome, Bahrain Med. Bull. 2013; 35 (1): 42-44 Abstract English A twenty-nine year old lady presented to the ophthalmology clinic with night blindness and was found to have retinitis pigmentosa in association with mental retardation, obesity, polydactyly and history of renal calculi Bardet-Biedl syndrome is an inherited condition that affects many parts of the body. People with this condition often have progressive visual impairment due to cone-rod dystrophy, extra fingers or toes (polydactyly), truncal obesity, decreased function of the male gonads (hypogonadism), kidney abnormalities, and learning difficulties

Lhermitte-Duclos disease | Radiology Reference Article

Bardet-Biedl syndrome Genetic and Rare Diseases

Bardet-Biedl syndrome متلازمة بارديه-بيدل * * * مُتَلاَزِمَةُ بارديه-بيدل (مرض وراثي عصبي استقلابي) English-Arabic Medical Dictionary. 2013. Barcoo disease; baresthesia; Look at other dictionaries:. Bardet-Biedl syndrome is rare, but in some geographically isolated regions, such as Newfoundland and Kuwait, the prevalence is higher (1:13,500 to 1:17,500). Clinical Findings. The primary definition of symptoms typical of Bardet-Biedl syndrome includes obesity, visual impairment, intellectual disability, polydactyly, and hypogenitalism Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proceedings of the National Academy of Sciences of the United States of America 105(18):6714-6719, 2008 Specialists who have done research into Bardet-Biedl syndrome. These specialists have recieved grants, written articles, run clinical trials, or taken part in organizations relating to Bardet-Biedl syndrome, and are considered knowledgeable about the disease as a result Bardet-Biedl syndrome is a condition that affects several parts of the body. It runs in families and may severely impair the sufferer. Symptoms and features of the conditio

The word symptoms of Bardet-Biedl syndrome, type 1 is the more general meaning; see symptoms of Bardet-Biedl syndrome, type 1. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Bardet-Biedl syndrome, type 1. This medical information about signs and symptoms for Bardet-Biedl. The Bardet-Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa. Disease description A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second.

New criteria for improved diagnosis of Bardet-Biedl

  1. Liu, Yangfan P. ; Katsanis, Nicholas./ Bardet-biedl syndrome.Polycystic Kidney Disease: Translating Mechanisms into Therapy. Taylor and Francis, 2018. pp. 27-5
  2. The Bardet-Biedl syndrome is a genetic disorder characterized mainly by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, renal dysplasia and renal failure in some cases. Historical Perspective. The syndrome is named after Georges Bardet and Arthur Biedl
  3. Bardet-Biedl syndrome (BBS) is characterised by progressive pigmentary retinopathy, obesity, hypogenitalism, renal involvement (including cysts, renal cortical loss or reduced ability to concentrate urine), mild mental retardation and postaxial polydactyly of the hands and feet
  4. The word symptoms of Bardet-Biedl syndrome, type 9 is the more general meaning; see symptoms of Bardet-Biedl syndrome, type 9. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Bardet-Biedl syndrome, type 9. This medical information about signs and symptoms for Bardet-Biedl.

Bardet-Biedl Syndrome

Bardet-Biedl syndrome, type 4: Related Disease Topics More general medical disease topics related to Bardet-Biedl syndrome, type 4 include: Mental retardation condition This 8-year-old girl was born with multiple congenital anomalies. The child had broad, short feet; postaxial polydactyly of the feet bilaterally; brachydactyly of the hands; cystic dysplasia of the kidneys; a single atrium; ventricular septal defect; retinitis pigmentosa; flat nasal bridge; and anteverted nares Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation. Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and kidney failure in some cases..

أعراض الإصابة بمتلازمة بارديت بيدل Bardet Biedl Syndrome. السمات الأساسية لمتلازمة بارديت بيدل هي السمنة الجذعية، الضعف الذهني، الشذوذ الكلوي، تعدد الأصابع، تنكس الشبكية ونقص التناسل Bardet-Biedl syndrome, type 10: Causes and Types. Causes of Broader Categories of Bardet-Biedl syndrome, type 10: Review the causal information about the various more general categories of medical conditions: Mental retardation conditions; Intellectual or developmental disabilitie Bardet Biedl Syndrome Family Association. 1,415 likes · 147 talking about this. A forum for sharing information about Bardet Biedl Syndrome and activities of the BBS Family Association. We recommend..

Bardet-Biedl syndrome - Conditions - GTR - NCB

- Bardet Biedl Syndrome - Laurence Moon Bardet Biedl Syndrome - Syndrome, Bardet-Biedl - Syndrome, Laurence-Moon-Bardet-Biedl : Français: Syndrome de Bardet-Biedl : Deutsch: Bardet-Biedl-Syndrom - Laurence-Moon-Bardet-Biedl-Syndrom : Español: Síndrome de Bardet-Biedl Bardet Biedl Syndrome is a rare genetic disorder and affects the human brain. As a result, it affects so many systems in the body like damage to the neurological functions All posts tagged in: Bardet-Biedl syndrome Bardet-Biedl syndrome Patient subject to oral rehabilitation. Prosthodontic Bardet Biedl Syndrome is a disease with a carrier frequency of (1 in 250 to 1 in 2200) and affects approximately (1 in 140,000) pregnancies. Bardet Biedl Syndrome: Autosomal recessive inheritance (25% if both parents are gene carriers) with an additional modifier gene has been described

[BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995). Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1-18) and 7 BBS proteins have been defined as related to BBS

Bardet-Biedl syndrome is a hereditary autosomal recessive disease characterized by retinal dystrophy, polydactyly, obesity, mental retardation, and hypogenitalism. One or more of the clinical features characterizing the syndrome may be absent, but retinal dystrophy is a consistent finding. It becomes clinically manifest in early childhood, with. Bardet-Biedl syndrome is a genetically inherited condition. It results from mutations in at least 14 different genes in the body. These are commonly called BBS genes BBS - Bardet Biedl Syndrome. MRI Magnetic Resonance Imaging; LNS Lesch-Nyhan syndrome; IBD Inflammatory Bowel Disease; CHD Coronary Heart Disease; PMS Premenstrual Syndrome; DS Down syndrome; CJD Creutzfeldt-Jakob disease; SWS Sturge-Weber syndrome; KTS Klippel-Trenaunay syndrome; KS Kawasaki syndrome Bardet-Biedl syndrome an autosomal recessive disorder characterized by mental retardation, pigmentary retinopathy, obesity, polydactyly, and hypogonadism; cf. Laurence-Moon s. and Biemond s., II. Medical dictionary Bardet-Biedl syndrome Subscriber Sign In Feedback Select Language Share. Search for a symptom, medication, or diagnosi

Bardet-Biedl syndrome (BBS) is a pleiotropic disorder characterized by retinal degeneration, obesity, post-axial polydactyly, cognitive impairment, hypogenitalism, and renal and cardiovascular anomalies (Green et al. N Engl J Med 321:1002-1009, 1989; Elbedour et al. Am J Med Genet 52:164-169, 1994). McKusick-Kaufman syndrome (MKKS) (OMIM# 236700) is characterized by hydrometrocolpos secondary. Bardet-Biedl syndrome Interpretation Translation Bar·det-Biedl syndrome (bahr-daґ beґd ə l) [Georges Bardet, French physician, 20th century; Artur Biedl, Austrian physician, 1869â€1933] see under syndrome

Bardet-Biedl syndrome - UH

  1. Bardet-Biedl Syndrome is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings).Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity
  2. Ciliopathy: Bardet-Biedl Syndrome. Adv Exp Med Biol. 2018;1085:171-174 Authors: Tsang SH, Aycinena ARP, Sharma T Abstract Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and..
  3. A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases
Bardet-Biedl syndrome : Imaging Findings | Eurorad

Ciliopathy: Bardet-Biedl Syndrome

  1. Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism, polydactyly, renal dysfunction, and mental retardation. BBS is typified by clinical variability observed both within and between.
  2. Bardet-Biedl syndrome, type 1: Causes and Types. Causes of Broader Categories of Bardet-Biedl syndrome, type 1: Review the causal information about the various more general categories of medical conditions: Mental retardation conditions; Intellectual or developmental disabilitie
  3. Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly and obesity which are the key elements of the Bardet-Biedl the syndrome. Laurence-Moon syndrome is a separate entity
  4. Search for this keyword . Advanced search; COB. About The Company of Biologists; Development; Journal of Cell Scienc
  5. Bardet Biedl Syndrome. One of the greatest challenges of today is to fight against various viruses and bacteria. These bacteria and viruses cause various dangerous diseases which are destroying the various homes all over the world. When it comes to human brain, it is the central organ which is controlling all the movements we are making.
  6. Learn more about Bardet-biedl Syndrome from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool
  7. Bardet-Biedl Syndrome 9. Alternative Names. BBS9. Associated Genes Parathyroid Hormone-Responsive B1 Gene. Back to search Result. WHO-ICD-10 version:2010. Congenital malformations, deformations and chromosomal abnormalities. Other congenital malformations. OMIM Number. 615986. Mode of Inheritance. Autosomal recessive

Bardet-Biedl syndrome - Breda Genetics sr

The Bardet-Biedl and Laurence-Moon syndromes are distinct entities. The nosology of five syndromes combining ocular and/or auditory defects, mental retardation, genital hypoplasia, obesity, and digital anomalies is reviewed ClinGen has not yet curated Bardet-Biedl syndrome 11. Please see the External Genomic Resources tab to find links to information from other sources about Bardet-Biedl syndrome 11. Send Feedback. The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. s. síndrome de Laurence Moon Bardet Biedl. Nuevo Diccionario Inglés-Español. Laurence-Moon-Bardet-Biedl syndrome bardet-biedl syndrome Listen to this. n. An inherited disorder characterized by mental retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism. Bardet-Biedl Syndrome (BBS)|Causes|Symptoms|Diagnosis|Treatment . Bardet-Biedl syndrome | European Journal of Human Genetics Families of Bardet Biedl Syndrome tem 1.549 membro

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