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  1. Content type: Review

    Pyoderma gangrenosum (PG) is a rare noninfectious neutrophilic dermatosis. Clinically it starts with sterile pustules that rapidly progress and turn into painful ulcers of variable depth and size with undermin...

    Authors: Uwe Wollina

    Citation: Orphanet Journal of Rare Diseases 2007 2:19

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  2. Content type: Review

    Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system. The point prevalence of this tumour is approximately 2/100,000. The o...

    Authors: Matthew R Garnett, Stéphanie Puget, Jacques Grill and Christian Sainte-Rose

    Citation: Orphanet Journal of Rare Diseases 2007 2:18

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  3. Content type: Review

    Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equ...

    Authors: Peter JM Crawford, Michael Aldred and Agnes Bloch-Zupan

    Citation: Orphanet Journal of Rare Diseases 2007 2:17

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  4. Content type: Review

    Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functio...

    Authors: Ellinor Ristoff and Agne Larsson

    Citation: Orphanet Journal of Rare Diseases 2007 2:16

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  5. Content type: Review

    Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunctio...

    Authors: Soon Koo Baik, Tamer R Fouad and Samuel S Lee

    Citation: Orphanet Journal of Rare Diseases 2007 2:15

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  6. Content type: Case Report

    Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by accumulation of lipoproteinaceous material within alveoli, occurring in three clinically distinct forms: congenital, acquired and seconda...

    Authors: Michele Ceruti, Giuseppe Rodi, Giulia M Stella, Andrea Adami, Antonia Bolongaro, Aldo Baritussio, Ernesto Pozzi and Maurizio Luisetti

    Citation: Orphanet Journal of Rare Diseases 2007 2:14

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  7. Content type: Review

    The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteri...

    Authors: Karine Morcel, Laure Camborieux and Daniel Guerrier

    Citation: Orphanet Journal of Rare Diseases 2007 2:13

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  8. Content type: Review

    Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac tumours ar...

    Authors: Orhan Uzun, Dirk G Wilson, Gordon M Vujanic, Jonathan M Parsons and Joseph V De Giovanni

    Citation: Orphanet Journal of Rare Diseases 2007 2:11

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  9. Content type: Research

    To examine the subjective health status of adults with short stature (ShSt) and compare with the general population (GP) and one well-known chronic disease, rheumatoid artritis (RA). In addition, to explore th...

    Authors: Heidi Johansen, Inger-Lise Andresen, Eva E Naess and Kare Birger Hagen

    Citation: Orphanet Journal of Rare Diseases 2007 2:10

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  10. Content type: Case Study

    To describe selected morphological and developmental features associated with subtelomeric deletion at chromosome 4q.

    Authors: Eric Scott Sills, MJ Burns, Laurinda D Parker, Lisa P Carroll, Lisa L Kephart, CS Dyer, Peter R Papenhausen and Jessica G Davis

    Citation: Orphanet Journal of Rare Diseases 2007 2:9

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  11. Content type: Review

    Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and t...

    Authors: Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent and Véronique David

    Citation: Orphanet Journal of Rare Diseases 2007 2:8

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  12. Content type: Review

    Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus ex...

    Authors: Christian P Hamel

    Citation: Orphanet Journal of Rare Diseases 2007 2:7

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  13. Content type: Review

    Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells. The classic osteosarcoma is a rare (0.2% of all malignan...

    Authors: Piero Picci

    Citation: Orphanet Journal of Rare Diseases 2007 2:6

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  14. Content type: Case Report

    DNA Ligase IV deficiency syndrome is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV gene (LIG4). The clinical phenotype shows overlap with a number of other rare syndrome...

    Authors: Bernd Gruhn, Joerg Seidel, Felix Zintl, Raymonda Varon, Holger Tönnies, Heidemarie Neitzel, Astrid Bechtold, Holger Hoehn and Detlev Schindler

    Citation: Orphanet Journal of Rare Diseases 2007 2:5

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  15. Content type: Review

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial ...

    Authors: Ineke van der Burgt

    Citation: Orphanet Journal of Rare Diseases 2007 2:4

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  16. Content type: Review

    Essential thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD) characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. The prevalence in the ge...

    Authors: Jean B Brière

    Citation: Orphanet Journal of Rare Diseases 2007 2:3

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  17. Content type: Case Report

    We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were short...

    Authors: Ali Al Kaissi, Franz Grill, Hatem Safi, Maher Ben Ghachem, Farid Ben Chehida and Klaus Klaushofer

    Citation: Orphanet Journal of Rare Diseases 2007 2:2

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  18. Content type: Review

    Hereditary chronic pancreatitis (HCP) is a very rare form of early onset chronic pancreatitis. With the exception of the young age at diagnosis and a slower progression, the clinical course, morphological feat...

    Authors: Jonas Rosendahl, Hans Bödeker, Joachim Mössner and Niels Teich

    Citation: Orphanet Journal of Rare Diseases 2007 2:1

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  19. Content type: Review

    A coronary arterial fistula is a connection between one or more of the coronary arteries and a cardiac chamber or great vessel. This is a rare defect and usually occurs in isolation. Its exact incidence is unk...

    Authors: Shakeel A Qureshi

    Citation: Orphanet Journal of Rare Diseases 2006 1:51

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  20. Content type: Review

    KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndr...

    Authors: Francesco Brancati, Anna Sarkozy and Bruno Dallapiccola

    Citation: Orphanet Journal of Rare Diseases 2006 1:50

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  21. Content type: Review

    Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). Their prevalence is about 0.1% in patients with hypertension ...

    Authors: Pierre-François Plouin and Anne-Paule Gimenez-Roqueplo

    Citation: Orphanet Journal of Rare Diseases 2006 1:49

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  22. Content type: Review

    Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. A US study estimated...

    Authors: Christoph Kamm

    Citation: Orphanet Journal of Rare Diseases 2006 1:48

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  23. Content type: Review

    Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and chara...

    Authors: Francesc Palau and Carmen Espinós

    Citation: Orphanet Journal of Rare Diseases 2006 1:47

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  24. Content type: Review

    Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare hereditary complex disorder characterized by the presence of medullary thyroid carcinoma (MTC), unilateral or bilateral pheochromocytoma (PHEO) and other hy...

    Authors: Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Isabella Tognarini, Ettore Luzi and Maria Luisa Brandi

    Citation: Orphanet Journal of Rare Diseases 2006 1:45

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  25. Content type: Research

    It is well established that asbestos is the most important cause of mesothelioma. The role of simian virus 40 (SV40) in mesothelioma development, on the other hand, remains controversial. This potential human ...

    Authors: Katharina Leithner, Andreas Leithner, Heimo Clar, Andreas Weinhaeusel, Roman Radl, Peter Krippl, Peter Rehak, Reinhard Windhager, Oskar A Haas and Horst Olschewski

    Citation: Orphanet Journal of Rare Diseases 2006 1:44

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  26. Content type: Review

    Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The p...

    Authors: Carlo Bellini, Francesco Boccardo, Corradino Campisi and Eugenio Bonioli

    Citation: Orphanet Journal of Rare Diseases 2006 1:43

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  27. Content type: Review

    The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of s...

    Authors: Jeannie Visootsak and John M Graham Jr

    Citation: Orphanet Journal of Rare Diseases 2006 1:42

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  28. Content type: Review

    Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease of unknown aetiology characterised by inflammation and fibrosis of the biliary tree. The mean age at diagnosis is 40 years and men ar...

    Authors: Joy Worthington and Roger Chapman

    Citation: Orphanet Journal of Rare Diseases 2006 1:41

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  29. Content type: Review

    Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is a...

    Authors: Christian Hamel

    Citation: Orphanet Journal of Rare Diseases 2006 1:40

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  30. Content type: Review

    Foetal/neonatal alloimmune thrombocytopaenia (NAIT) results from maternal alloimmunisation against foetal platelet antigens inherited from the father and different from those present in the mother, and usually...

    Authors: Cecile Kaplan

    Citation: Orphanet Journal of Rare Diseases 2006 1:39

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  31. Content type: Review

    Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised ...

    Authors: Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Alessia Gozzini, Ettore Luzi and Maria Luisa Brandi

    Citation: Orphanet Journal of Rare Diseases 2006 1:38

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  32. Content type: Review

    Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondroma...

    Authors: Caroline Silve and Harald Jüppner

    Citation: Orphanet Journal of Rare Diseases 2006 1:37

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  33. Content type: Review

    Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome i...

    Authors: Gottfried Novacek

    Citation: Orphanet Journal of Rare Diseases 2006 1:36

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  34. Content type: Review

    A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudde...

    Authors: Carlo Napolitano and Silvia G Priori

    Citation: Orphanet Journal of Rare Diseases 2006 1:35

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  35. Content type: Review

    CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, a...

    Authors: Kim D Blake and Chitra Prasad

    Citation: Orphanet Journal of Rare Diseases 2006 1:34

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  36. Content type: Review

    The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infant...

    Authors: Paola Cerruti Mainardi

    Citation: Orphanet Journal of Rare Diseases 2006 1:33

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  37. Content type: Review

    Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Rom...

    Authors: Luba Kalaydjieva

    Citation: Orphanet Journal of Rare Diseases 2006 1:32

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  38. Content type: Review

    Retinoblastoma is a rare eye tumor of childhood that arises in the retina. It is the most common intraocular malignancy of infancy and childhood; with an incidence of 1/15,000–20,000 live births. The two most ...

    Authors: Isabelle Aerts, Livia Lumbroso-Le Rouic, Marion Gauthier-Villars, Hervé Brisse, François Doz and Laurence Desjardins

    Citation: Orphanet Journal of Rare Diseases 2006 1:31

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  39. Content type: Review

    Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder, which has three cardinal features: behavioral and personality changes, cognitive ...

    Authors: Zbigniew K Wszolek, Yoshio Tsuboi, Bernardino Ghetti, Stuart Pickering-Brown, Yasuhiko Baba and William P Cheshire

    Citation: Orphanet Journal of Rare Diseases 2006 1:30

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  40. Content type: Review

    Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown...

    Authors: Jiri Vajsar and Harry Schachter

    Citation: Orphanet Journal of Rare Diseases 2006 1:29

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  41. Content type: Review

    Biliary atresia (BA) is a rare disease characterised by a biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age ...

    Authors: Christophe Chardot

    Citation: Orphanet Journal of Rare Diseases 2006 1:28

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  42. Content type: Review

    Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premat...

    Authors: Matthew RG Taylor, Elisa Carniel and Luisa Mestroni

    Citation: Orphanet Journal of Rare Diseases 2006 1:27

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  43. Content type: Review

    Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized. The incidence of HP ...

    Authors: Yves Lacasse and Yvon Cormier

    Citation: Orphanet Journal of Rare Diseases 2006 1:25

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  44. Content type: Case Study

    Hypophosphatasia (HP) is an inborn error of bone metabolism characterized by a genetic defect in the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP). There is a lack of knowledge as to how t...

    Authors: HJ Girschick, P Schneider, I Haubitz, O Hiort, H Collmann, M Beer, YS Shin and HW Seyberth

    Citation: Orphanet Journal of Rare Diseases 2006 1:24

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  45. Content type: Review

    Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx. The annual incidence of NPC in the UK is 0.3 per million at age 0–14 years, and 1 to...

    Authors: Bernadette Brennan

    Citation: Orphanet Journal of Rare Diseases 2006 1:23

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  46. Content type: Review

    Microvillous inclusion disease (MVID) or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by ...

    Authors: Frank M Ruemmele, Jacques Schmitz and Olivier Goulet

    Citation: Orphanet Journal of Rare Diseases 2006 1:22

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  47. Content type: Review

    The Carney complex (CNC) is a dominantly inherited syndrome characterized by spotty skin pigmentation, endocrine overactivity and myxomas. Skin pigmentation anomalies include lentigines and blue naevi. The mos...

    Authors: Jérôme Bertherat

    Citation: Orphanet Journal of Rare Diseases 2006 1:21

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