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Sclerosteosis Type 2



  • He is Executive Advisory Editor of Bone Research (2013-present).[books.google.it]
  • Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how[books.google.it]
  • Presents the work of many new contributors for fresh perspectives on the current state of pediatric endocrinology. Provides new tables of normal values and growth charts for monitoring your patients progress.[books.google.com]
  • Other disorders which present with osteosclerosis are also described. These include Caffey disease, oculodento-osseous dysplasia, central osteosclerosis with bamboo hair, fluorosis, osteosclerosis associated with renal disease and mastocytosis.[books.google.com]
  • Sclerosteosis 2 is inherited in an autosomal recessive manner meaning that two mutated genes needs to be present, one from the mother and one from the father, to have the disorder.[diseaseinfosearch.org]
  • The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.[books.google.it]
  • Gene LRP4 gene, 11p11.2 (OMIM gene/locus number *604270 ) Phenotype Syndactyly/brachyphalangy with nail dysplasia, increased stature, increased head circumference, facial asymmetry due to facial nerve palsy, frontal bossing, prognathism, hearing loss,[iofbonehealth.org]
Hearing Impairment


  • 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.com]
  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Surgery is also available as a treatment option. If you or a family member has been diagnosed with sclerosteosis 2, talk with your doctor about the most current treatment options.[diseaseinfosearch.org]
  • Comprehensive yet accessible, this extensively revised 12th Edition updates you on diabetes, metabolic syndrome, obesity, thyroid disease, testicular disorders, and much more so you can provide your patients with the most successful treatments.[books.google.it]


  • Prognosis The prognosis for individuals affected by sclerosing bone dysplasia varies greatly depending upon the type of sclerosing bone dysplasia and severity of symptoms.[encyclopedia.com]


  • Current aspects of etiology, diagnosis and therapy in otosclerosis . Otolaryng Pol 2011 ; 65 : 162 –70 25 Perez , R , de Almeida , J , Nedzelski , JM , Chen , JM .[cambridge.org]
  • […] endocrinology 19 (3), 115-124 , 2004 45 2004 Adiponectin is an independent determinant of insulin resistance in women with polycystic ovary syndrome NE Gulcelik, Y Aral, R Serter, Y Demir, C Çulha Gynecological endocrinology 22 (9), 511-515 , 2006 36 2006 Etiology[scholar.google.com.tr]
  • Understanding the etiology of Stargardt’s disease. Ophthalmol Clin North Am . 2002;15:93–100. [CrossRef] [PubMed] 30 Koenekoop RK. The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.[iovs.arvojournals.org]


  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.it]
  • Relevant External Links for SOST Genetic Association Database (GAD) SOST Human Genome Epidemiology (HuGE) Navigator SOST Atlas of Genetics and Cytogenetics in Oncology and Haematology: SOST No data available for Genatlas for SOST Gene Bone dysplasia sclerosteosis[genecards.org]
  • Epidemiology and outcomes of osteoporotic fractures. Lancet 2002 ;359: 1761 - 1767 2. NIH Consensus Development Panel on Osteoporosis Prevention, Diagnosis, and Therapy. Osteoporosis prevention, diagnosis, and therapy. JAMA 2001 ;285: 785 - 795 3.[nejm.org]
Sex distribution
Age distribution


  • Sclerosteosis: neurogenic and pathophysiologic analysis of an American kinship . Neurology 1983 ; 33 : 267 –77 3 Beighton , PH , Hamersma , H , Brunkow , ME . SOST-related sclerosing bone dysplasias .[cambridge.org]


  • The SOST2 gene is responsible for making sclerostin, a protein that normally functions in preventing bone formation.[diseaseinfosearch.org]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
  • Heterozygous mutations located in the secretion signal of the SOST gene prevent sclerostin secretion and can be responsible for craniodiaphyseal dysplasia.[genecards.org]
  • Mutations in the SOST gene that cause sclerosteosis prevent the production of any functional sclerostin. A lack of sclerostin disrupts the inhibitory role it plays during bone formation, causing excessive bone growth.[ghr.nlm.nih.gov]

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