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Spondyloepiphyseal Dysplasia Type Byers

SED Type Byers


Presentation

  • At present, effective therapy is available for relatively few genetic conditions and prenatal diagnosis is an important option for couples at high risk.[books.google.com]
  • Many patients achieve an adult height of more than 153 cm and true dwarfism may not be present.[orpha.net]
  • In Figure 4, examples of useful diagnostic findings on radiographs are presented.[healio.com]
  • In this study we screened these genes in a proband presenting with the severe form (type III) of osteogenesis imperfecta for mutations which might result in the phenotype.[wwww.unboundmedicine.com]
  • •Secondary skull deformity is often present due to the premature closure of cranial sutures. •Cloverleaf skull deformity is generally seen in type 2 . • Polyhydramnios is present in almost 50% of cases.[slideshare.net]
Thyroid Nodule
  • MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND 39 THE THYROID[books.google.com]
Goiter
  • MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND[books.google.com]
Lymphadenopathy
  • […] lobar emphysema Charcot-Marie-Tooth disease Sequeiros Sack syndrome Orofaciodigital syndrome 4 Arterial tortuosity syndrome DPAGT1-CDG (CDG-Ij) Le Marec Bracq Picaud syndrome Primary hyperoxaluria type 1 Congenital erythropoietic porphyria Histiocytosis-lymphadenopathy[checkrare.com]
Dysphagia
  • […] lipodystrophy associated with PPARG mutations Saul Wilkes Stevenson syndrome Cartilage-hair hypoplasia Nguyen syndrome Glanzmann thrombasthenia Jacobsen syndrome 6-pyruvoyl-tetrahydropterin synthase deficiency Charcot-Marie-Tooth disease type 2B Odontoma dysphagia[checkrare.com]
Piebaldism
  • […] hygroma Popliteal pterygium syndrome, Bartsocas-Papas type PACS1-related syndrome Ichthyosis, mental retardation, dwarfism and renal impairment Radial ray agenesis Spinal atrophy ophthalmoplegia pyramidal syndrome Metaphyseal chondrodysplasia Spahr type Piebaldism[checkrare.com]
Dysarthria
  • […] refractive errors Spinocerebellar ataxia autosomal recessive 7 Agammaglobulinemia, non-Bruton type IL12RB1 deficiency MYD88 deficiency Goldmann-Favre syndrome Usher syndrome, type 1 Progressive deafness with stapes fixation Sensory ataxic neuropathy, dysarthria[checkrare.com]

Workup

Abnormal Thyroid Function Test
  • THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL[books.google.com]

Treatment

  • Treatment [ edit ] Treatment for SEDc varies because the condition affects several body systems, and each child’s case is different. Some children will only require careful monitoring.[en.wikipedia.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The evaluation and initial treatment of the neonate who has short limbs and a suspected skeletal disorder require a multidisciplinary approach, usually the expertise of a neonatologist, a medical geneticist, and a radiologist.[mhmedical.com]
  • Ziambaras et al., EXTRASKELETAL OSTEOCLASTOMAS RESPONSIVE TO DEXAMETHASONE TREATMENT INPAGET BONE-DISEASE, The Journal of clinical endocrinology and metabolism, 82(11), 1997, pp. 3826-3834[acnpsearch.unibo.it]
  • The use of virtual reality in acrophobia research and treatment. Journal of Anxiety Disorders. 23: 563-74.[neurotree.org]

Prognosis

  • This will permit informed discussions surrounding the prognosis to be held with the parents and caregivers, and allow a management plan to be drawn up.[dovepress.com]
  • Prognosis is extremely poor, with severe mental retardation, spastic tetraplegia, and thermoregulatory instability. •Radiologic features include very short humeri and relatively short femora with some metaphyseal splaying.[slideshare.net]

Etiology

  • There are currently more than 400 recognized genetic skeletal disorders, which can be divided into several groups based on molecular, biochemical, or radiographic criteria. 1 The molecular etiology is known for approximately 300 of these genetic skeletal[mhmedical.com]
  • Etiology The X-linked recessive type is caused by mutations in the TRAPPC2 gene (locus Xp22.2-p22.1). Genetic counseling SEDT may be transmitted as an X-linked recessive, autosomal recessive or autosomal dominant trait.[orpha.net]
  • Named for their common impact on bone histiogenesis, this category contains over 100 entities of sporadic, teratogenic, or genetic etiology.[healio.com]
  • The etiology of this rare form has not been established, but it does not result from mutations COL1A1(I) or COL1A2(I) which are the responsible disease genes for most dominant forms of OI.[nature.com]
  • Etiology: 1.Skeletal dysplasia • Diastrophic dysplasia.[slideshare.net]

Epidemiology

  • Summary Epidemiology The X-linked variant of the disease is most common, with an estimated prevalence of 1 in 150,000-200,000. Clinical description Patients may have normal body proportions at birth.[orpha.net]
  • Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme – The International Classification of Diseases is the international standard diagnostic tool for epidemiology, health management and clinical purposes.[wikivisually.com]
  • Currently, there is no case registration system for most rare diseases, so there is very little documented information on the epidemiology of those diseases in China[ 7 ]. China still lacks an official definition and spectrum of rare diseases.[ojrd.biomedcentral.com]
  • View Article PubMed Google Scholar Remvig L, Jensen DV, Ward RC: Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature. J Rheumatol. 2007, 34: 804-809.[ped-rheum.biomedcentral.com]
  • Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep 2007; 5 : 91–97. 57. Sillence DO. Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci 1988; 543 : 1–15. 58. Madigan WP, Wertz D, Cockerham GC, Thach AB.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • Physiology and pathophysiology of the growth plate. Birth Defects Res C Embryo Today 2003; 69 : 123–143. 5. Ballock RT, O'Keefe RJ. The biology of the growth plate. J Bone Joint Surg Am 2003; 85 : 715–726. 6.[nature.com]

Prevention

  • […] shortening of femoral bones because of proximal focal femoral hypoplasia. 4, 5 These nongenetic etiologies are important to recognize to be able to provide accurate information regarding recurrence risk and, in cases of a teratogen exposure, to be able to prevent[mhmedical.com]
  • All of these changes prevent the normal production of mature type I collagen, which results in this severe condition, type II osteogenesis imperfecta.[en.academic.ru]
  • Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition. [ citation needed ] Spondyloepiphyseal dysplasia congenita is inherited[en.wikipedia.org]
  • Accident; Analysis and Prevention. 71: 177-82. PMID 24929822 DOI: 10.1016/j.aap.2014.05.014 1 2014 Newport C, Wallis G, Siebeck UE. Concept learning and the use of three common psychophysical paradigms in the archerfish (Toxotes chatareus).[neurotree.org]
  • Congenital Disorders - Special Dietary Contract Scott Schwoerer, Jessica A (PI) Michigan Public Health Institute Defining the Natural History of Inborn Errors of Metabolism Collaborative Wargowski, David S (PI) DHHS, PHS, Centers For Disease Control & Prevention[new.pediatrics.wisc.edu]

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