Symptoma

Osteopathia Striata

Voorhoeve Disease

The otorhinolaryngologic clinical presentation and temporal bone computed tomography (CT) findings of a new case of OS-CS are presented. Differential diagnosis is also discussed. [ncbi.nlm.nih.gov]

  • Coarse Facial Features

    facial features Coarse facial appearance 0000280 Diabetic ketoacidosis 0001953 Facial hyperostosis Enlargment of the facial bones Excessive growth of facial bones Excessive growth of facial skeleton Increase in size of the facial bones Overgrowth of [rarediseases.info.nih.gov]

  • Hunting

    Hunt in 1953, who introduced the eponymic term Voorhoeve's. Bibliography N. Voorhoeve: L’image radiologique non encore décrite d’une anomalie du squélette. Ses rapports avec la dyschondroplasie et l'osteopathia condensans disseminata. [whonamedit.com]

  • Microdontia

    A case of osteopathia striata, childhood cataracts, short stature, elbow deformity, and microdontia with rhizomicry in a white male is reported. The report includes a detailed analysis of dental changes. [ncbi.nlm.nih.gov]

  • Osteopenia

    Skeletal survey revealed mild osteopenia, interpediculate narrowing of the lumbar spine with short neural arches and, most important, osteopathia striata of the long tubular bones. There was no sclerosis of the craniofacial bones. [ncbi.nlm.nih.gov]

  • High Forehead

    The characteristic features exhibited by the patient in this case report were dense maxillary and mandibular bone, a high forehead with frontal bossing, a broad nasal bridge, prominent zygomatic arches and thickened angles of the mandible. [ncbi.nlm.nih.gov]

  • Beak Nose

    Craniofacial anomalies included a sloping forehead, bitemporal bulging, sparse medial eyebrows, a prominent nasal bridge, hypertelorism, proptosis, a beaked nose, hypoplastic alae nasi and a pointed chin. [ncbi.nlm.nih.gov]

  • Beaked Nose

    Craniofacial anomalies included a sloping forehead, bitemporal bulging, sparse medial eyebrows, a prominent nasal bridge, hypertelorism, proptosis, a beaked nose, hypoplastic alae nasi and a pointed chin. [ncbi.nlm.nih.gov]

  • Learning Difficulties

    Typically affected females show macrocephaly, characteristic facial appearance, cleft palate, mild learning difficulties, hearing loss, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis [ncbi.nlm.nih.gov]

Workup Imaging Studies Radiography in focal dermal hypoplasia (FDH) may reveal osteopathia striata. Osteopathia striata consists of longitudinal striations in the metaphyses of the bones. [emedicine.medscape.com]

  • Increased Bone Density

    The radiographic findings include cranial sclerosis, linear striations in the long bones and iliac wings, small poorly aerated sinuses, scoliosis, and increased bone density. [ncbi.nlm.nih.gov]

    Increased bone density without modifcation of bone shape Osteopetrosis precocious type Generalised AR delayed type Type 1 uniform AD intermediate type Type 2 endobones with renal tubular Generalised AR AR acidosis Similar other types Axial osteosclerosis [medical-dictionary.thefreedictionary.com]

    The mouth opening was limited as a result of sclerosis of the m... more Stephen Robertson and colleagues report that germline mutations in WTX cause an X-linked sclerosing bone dysplasia marked by increased bone density and craniofacial malformations [scinapse.io]

The aim of this case report was to describe in detail the dental findings in a patient with OC-CS and the precautions to be taken when planning treatment. [ncbi.nlm.nih.gov]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.de]

Conductive hearing in these patients may be amenable to surgical treatment. 51-year-old woman presents from ENT clinic with mixed conductive and sensorineural hearing loss. View Case [ajnr.org]

Management and treatment Management is supportive and aims at providing multidisciplinary surveillance and symptomatic management of complications. [orpha.net]

Hirschsprung disease, Pierre Robin sequence, coronal craniostenosis, and laryngotracheomalacia were associated with a poor prognosis. [ncbi.nlm.nih.gov]

Prognosis Cases with severe multiple manifestations and those associated with Hirschsprung disease, Pierre Robin sequence and coronal craniostenosis have poor prognosis. [orpha.net]

[…] marrow cavity by abnormal bone because osteoclasts unable to resorb disorganized primary spongiosa; thickened physis zone of hypertrophy); no zone of calcifica-tion, osteoclasts are deficient in function (not in number), chronic internal hydrocephaly PROGNOSIS [orthopaedicsone.com]

Cases with severe multiple manifestations and those associated with Hirschsprung disease, Pierre Robin sequence and coronal craniosynostosis have poor prognosis. NOTE: The above information is for processing purpose. [medigoo.com]

Our study confirms the typical appearance of the temporal bone reported in previous CT studies and the utility of CT for evaluating the various etiologies of conductive-mixed hearing loss present in OS-CS. [ncbi.nlm.nih.gov]

Etiology OS-CS is associated with mutations in the Wilms tumour gene on the X chromosome ( WTX ), a repressor of WNT signaling (beta-catenin pathway implicated in control of target genes in the nucleus). [orpha.net]

[…] interstitial and granulonodulo alveolar pattern 324 Interstitialreticular pulmonary pattern 326 Disseminated interstitial pneumonitis 327 The miliary pattern of pneumonia 328 Short linear andor wedgeshaped densities 329 Pulmonary edema in infancy and childhood Etiology [books.google.de]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Summary Epidemiology Fewer than 100 cases have been reported in the literature. [orpha.net]

Ugrik rövid alatt vérnyomás Epidemiology Oseopathia striata can be found in any age group. [acarojezuhotyk.cf]

Epidemiology Oseopathia striata can be found in any age group. Clinical presentation. - diagnoza zapalenia gruczołu krokowego szao Osteopatia może pomóc pacjentom zmagającym się z zapaleniem gruczołu krokowego. [umyyub.co.nf]

American Journal of Human Genetics 54(5): 864-870, 1994 Further epidemiological evidence for anticipation in schizophrenia. [eurekamag.com]

Natascia Liberati;Paolo Radice;Luigi Tarani;Angelo Selicorni;Daniela Perotti;UOS, Pediatric Genetic Unit,Pediatric Department, MBBM Foundation,S Gerardo Hospital,20900 Monza, Italy;Molecular Bases of Genetic Risk and Genetic Testing Unit, Department of Preventive [tr.oversea.cnki.net]

Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. [icdlist.com]

Department of Preventive and Predictive Medicine Unit of Molecular Bases of Genetic Risk and Genetic Testing Fondazione IRCCS Istituto Nazionale dei Tumori Milano Italy [email] @istitutotumori.mi.it Name/email consistency: high Affiliations Department [wikigenes.org]

Authors’ Affiliations (1) Department of Pediatrics, Policlinico Umberto I, Sapienza University, Rome, Italy (2) Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy (3) NICU- Department of Medical [ijponline.biomedcentral.com]

Staff Scientist at the Department of Preventive and Predictive Medicine. 1. P. Radice, D. Perotti, V. De Benedetti, P. Mondini, S. Pilotti, R. Luksch, F. Fossati Bellani, M.A. Pierotti. [ivyunion.org]