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| Â | Endotext.com - Pediatric Endocrinology, Growth Failure Associated with Skeletal Disorders |
 | | The family history should include information about other affected family members and possible consanguinity. | | | The clinical evaluation should start with a complete medical history that includes previous growth points. | | | Primarily care physicians should be alert to the possibility of neurological complications associated with achondroplasia. |
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http://www.endotext.org/pediatrics/pediatrics2/pediatrics2.htm
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| Â | eMedicine - Skeletal Dysplasia : Article by Harold Chen, MD, MS, FAAP, FACMG |
| | Medical care for individuals with skeletal dysplasia should be directed at preventing neurologic and orthopedic complications due to spinal cord compression, joint instability, and long bone deformity. | | | Even though recent experience has been more favorable (lower incidence of pain, infections, and neurologic/vascular compromise), postponement of such surgical intervention is advocated until the young person is able to make an informed decision. | | | During the 1950s and 1970s, many new bone dysplasias were identified based on clinical manifestations, radiographic findings, inheritance patterns, and morphology of the growth plate. |
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http://www.emedicine.com/PED/topic625.htm
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| Â | Otospondylomegaepiphyseal dysplasia - Genetics Home Reference |
| | Only a few families with the condition have been reported. | | | The name of the condition indicates that it affects hearing (oto-) and the bones of the spine (spondylo-), and enlarges the ends of bones (megaepiphyses). | | | You may also be interested in these resources, which are designed for healthcare professionals and researchers. |
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http://ghr.nlm.nih.gov/ghr/disease/otospondylomegaepiphysealdysplasia/aspect/Sources+for+this+page
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| Â | Minnesota DeafBlind Technical Assistance Project |
| | Genetic evaluation : Most medical schools have a clinical genetics division, which may be part of the department of pediatrics, internal medicine or obstetrics/gynecology. | | | Several short stature conditions are caused by COL2A1. | | | Two short-stature conditions are also caused by COL11A2 changes. |
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http://www.dbproject.mn.org/syndromes/Stickler.htm
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| Â | MedlinePlus: Bone Diseases |
| | Genetics Home Reference: Otospondylomegaepiphyseal dysplasia (National Library of Medicine) | | | Information for Patients about Fibrous Dysplasia (Osteoporosis and Related Bone Diseases-National Resource Center) | | | Information for Patients about Osteopetrosis (Osteoporosis and Related Bone Diseases-National Resource Center) |
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http://www.nlm.nih.gov/medlineplus/bonediseases.html
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| Â | Arthritis Research & Therapy Full text The role of structural genes in the pathogenesis of osteoarthritic ... |
| | It is likely that the chondrocalcinosis phenotype in this family is a secondary consequence of the advanced and severe OA, since structural changes in the articular cartilage extracellular matrix may predispose to crystal formation [ 36, 37 ]. | | | Mutations in COL11A2 are associated with a nonocular Stickler-like syndrome, otospondylomegaepiphyseal dysplasia [ 67-70 ], Weissenbacher–Zweymuller syndrome [ 69 ], or nonsyndromic forms of deafness called DFNA13 (deafness, autosomal dominant nonsyndromic sensorineural 13) [ 71 ]. | | | Hereditary OA can be subdivided into conditions such as early-onset OA associated with an underlying familial osteochondrodysplasia, conditions associated with metabolic joint diseases including crystal-associated arthropathies (familial calcium pyrophosphate deposition disease and familial hydroxyapatite deposition disease), and primary generalized osteoarthritis (PGOA) with mild dysplasia [ 26, 27 ]. |
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http://arthritis-research.com/content/4/6/337
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| Â | Stickler Syndrome |
| | 1996) reported on an individual with short stature, radiographic changes consistent with a spondyloepiphyseal dysplasia, and brachydactyly E. heterozygous | | | Treatment is symptomatic and includes using over-the-counter anti-inflammatory medications both before and after physical activity. | | | Hearing loss can be progressive, so follow-up audiologic evaluations are recommended in affected persons. |
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http://www.geneclinics.org/profiles/stickler/details.html
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| Â | Skeletal Gene Data |
| | murine: Enx (Hox11l1)-/- mice develop neuronal intestinal dysplasia & megacolon | | | otospondylomegaepiphyseal dysplasia (OSMED) Weissenbacher-Zweymuller syndrome Stickler syndrome without ocular anomaly non-syndromic hearing loss | | | achondroplasia murine: Fgfr3-/- skeletal overgrowth knock-in murine Fgfr3 achondroplasia hypochondroplasia thanatophoric dysplasia type I & type II Crouzon syndrome with acanthosis nigricans Muenke non-syndromic coronal cranio- synostosis severe achondroplasia, developmental delay, acanthosis nigricans syndrome Saethre-Chotzen syndrome |
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http://sgd.nia.nih.gov/skeletal/skeletal_database.html
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| Â | AMIEL J |
| | All affected individuals had a remarkably similar phenotype: profound sensorineural hearing loss, skeletal dysplasia with limb shortening and large epiphyses, cleft palate, an extremely aat face, hypoplasia of the mandible, a short nose with anteverted nares, and a nat nasal bridge. | | | Finally, the study of the molecular bases of HSCR is also a step towards the understanding of developmental genetics of the enteric nervous system giving support to the role of the tyrosine kinase and endothelin-signaling pathways in the development of neural crest-derived enteric neurons in human. | | | Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. |
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http://www.necker.fr/irnem/Unites%202000/u393.htm
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| Â | Gene Expression Atlas: Text Query |
| | Differently from Stickler syndrome type 1 and 2, no ocular involvement is observed. | | | This disorder is also referred to as Stickler-like syndrome or non-ocular Stickler syndrome DISEASE Defects in COL11A2 are the cause of autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150], a skeletal dysplasia accompanied by severe hearing loss. | | | Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, and autosomal dominant nonsyndromic sensorineural 13 deafness. |
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http://expression.gnf.org/cgi-bin/index.cgi?chip=U95A&text=41652_at
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| Â | CCDD: Family: Education: Descriptions of Disorders |
| | Cleidocranial Dysplasia (Cleidocranial Dysostosis): Cleidocranial dysplasia is a genetic condition that features problems with the development of bones and teeth. | | | Ectodermal Dysplasia Syndromes: The ectodermal dysplasia syndromes are a group of about 150 heritable disorders that affect the ectoderm, the outer layer of tissue in a developing baby. | | | Hemifacial Microsomia (includes Goldenhar Syndrome, Oculo-Auriculo-Vertebral Dysplasia, Facio-Auriculo-Vertebral Dysplasia) : This spectrum of conditions generally involve underdevelopment of one side of the face along with variable eye, ear, and vertebral anomalies. |
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http://www.hopkinsmedicine.org/craniofacial/Education/Disorders.cfm?Source=Family
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| Â | Birth Disorder Information Directory - N |
| | Nance Insley Syndrome (Chondrodystrophy with Sensorineural Deafness, Nance Sweeny Chondrodysplasia, Otospondylomegaepiphyseal Dysplasia) |
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http://www.bdid.com/defectn.htm
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| Â | ICD Coding Newsletter August 2000 |
| | Otospondylomegaepiphyseal dysplasia (OSMED) is a congenital condition with major features of deafness, cleft palate, short stature and large joints. It is a very rare condition (1:millions). | | | A colon cancer patient admitted for chemotherapy which was cancelled due to a URTI. Patient discharged on the same day. We assigned the following codes: | | | It is quite different from spondylopepiphyseal dysplasia (Q77.7). SED is far more common and a specific gene has been identified to be responsible for this disease. The ‘oto’ and ‘mega’ are important parts of OSMED. The suggested code is: |
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http://www.health.vic.gov.au/hdss/icdcoding/newslet/2000-01/aug0011.htm
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| Â | Chondrodysplasias |
| | Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder. | | | Non-ocular Stickler syndrome has also been called heterozygous otospondylomegaepiphyseal dysplasia (OSMED) (Pihlajamaa | | | It is sometimes difficult to distinguish between the phenotypes of mild chondrodysplasias such as Stickler syndrome, non-ocular Stickler syndrome, and Marshall Syndrome (see section 2.5.2.3). |
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http://herkules.oulu.fi/isbn9514272056/html/x468.html
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| Â | Stickler's Articles - Diagnostics / Genetics |
| | 2001 Oct - Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). |
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http://oregonsticklers.homestead.com/sticklergenetic.html
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| Â | Esm1 Grzeschik Vol. 46, No. 7 (2002) |
| | Human limb malformations; an approach to the molecular basis of development | | | Long bone deformity evident at birth or in the first 2 years of life. | | | Talipes equinovarus, Variable skin S. of fingers and toes, Pyramidal skinfold of halluces. |
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http://www.ijdb.ehu.es/0207/esm1grzeschik.htm
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| Â | European Skeletal Dysplasia Network |
| | The 29 specific skeletal dysplasias for which molecular diagnosis is offered are shown in the table below. | | | Diastrophic dysplasia, Achondrogenesis 1B, Atelosteogenesis type II, Multiple Epiphyseal Dysplasia (R), Other DTD variant disorders | | | Each skeletal dysplasia listed is linked to the appropriate service profile. |
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http://www.esdn.org/diagnosis.html
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| Â | MGI_3.1 - Allele Query Results (Detail) |
| | Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED OMIM | | | Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: STICKLER SYNDROME, TYPE III; STL3 OMIM | | | J:71948, Li SW; Takanosu M; Arita M; Bao Y; Ren ZX; Maier A; Prockop DJ; Mayne R, Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: Comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED)., Dev Dyn 2001 Oct;222(2):141-52 |
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http://www.informatics.jax.org/searches/allele.cgi?4285
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| Â | Minor cartilage collagens |
| | There are in fact many reports describing defects in the genes for collagens IX and XI in patients with a variety of chondrodysplasias, including multiple epiphyseal dysplasia, Stickler syndrome, Marshall syndrome and otospondylomegaepiphyseal dysplasia. | | | In order to screen the minor cartilage collagen genes for mutations, it is essential to know their gene structures. |
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http://herkules.oulu.fi/isbn9514272056/html
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| Â | Hearing Impairment and Associated Handicaps. An aetiological study |
| | We expect that further developments in medicine will continue to extend our knowledge about deafness and we hope that this will be beneficial, especially for multiply handicapped deaf children to cope with their needs and demands. | | | Although thyroid function tests were normal, thyroglobulin levels were elevated and the diagnosis of the Pendred syndrome was confirmed by the positive results of a potassium perchlorate test. | | | In Chapter 5.1 a case study is presented of a boy with rapidly progressive sensorineural hearing impairment. |
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http://www.nvvs.nl/medisch/admiraal_en.htm
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| Â | Otospondylomegaepiphyseal dysplasia - Wiktionary |
| | Wiktionary does not have an entry for this word yet. | | | If you created an entry under this title previously, it may have been deleted. |
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http://en.wiktionary.org/wiki/:Otospondylomegaepiphyseal_dysplasia
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| Â | Table 1 |
| | Mutations in a number of genes have been shown to cause congenital skeletal disorders, often with defects in cartilage formation as the primary basis. | | | Achondrogenesis, type IB Atelosteogenesis, type II Diastrophic dysplasia | | | Thanatophoric dysplasia, types I and II Fibroblast growth factor receptor 1 |
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http://arthritis-research.com/content/4/2/94/table/T1
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| Â | cmbdtemplate1 |
| | Li, S-W., Takanosu, M., Arita, M., Bao, Y., Ren, Z-X., Maier, A., Prockop, D.J., and Mayne, R. Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). |
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http://cmbd.path.uab.edu/bio/73.htm
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| Â | MGI 2.9 Genes Tutorial |
| | IRIS DYSPLASIA WITH OCULAR HYPERTELORISM, PSYCHOMOTOR RETARDATION AND SENSORINEURAL DEAFNESS | | | DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY | | | GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION |
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http://www.informatics.jax.org/tutorials/genes/genes4.6.shtml
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