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Pyle's Disease

Pyle Disease


Presentation

  • The present paper describes the radiographic features of Pyle's disease in a 17-year-old girl and draws attention to the findings in the jaw bones.[ncbi.nlm.nih.gov]
  • The authors present the case of a sister and a brother who came to our observation at different times and both affected with Pyle's disease with marked valgus of the knee.[ncbi.nlm.nih.gov]
  • The documents contained in this web site are presented for information purposes only. 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]
  • A case is presented in which bilateral osteotomies were performed through the proximal tibia for progressive genu valgum. The osteotomies healed within 12 weeks when treatment was performed with standard techniques.[ncbi.nlm.nih.gov]
  • The roentgenographic pattern of this never (to our knowledge) before reported associated and the mode of inheritance are presented.[ncbi.nlm.nih.gov]
Pathologist
  • And this week marks the release of the movie "Concussion" that chronicles the NFL's resistance to findings of CTE by pathologist Bennett Omalu.[chicagotribune.com]
Hearing Impairment
  • The California Ear Institute provides hearing-related services for both congenital and acquired hearing impairments (both sensineural and conductive losses) associated with the disorders on the following list: For more information on any the following[californiaearinstitute.com]
Arthralgia
  • […] gene and is inherited in an autosomal recessive manner. 0000684 Percent of people who have these symptoms is not available through HPO Abnormality of the thorax Abnormality of the chest 0000765 Absent paranasal sinuses Missing paranasal sinuses 0002689 Arthralgia[rarediseases.info.nih.gov]
Aggressive Behavior
  • behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity[se-atlas.de]
Broad Nasal Bridge
  • Symptoms - Pyle disease * Asymptomatic * Headache * Vomiting * Irritability * Delayed motor development * Vacant expression * Blindness * Deafness * Paralysis of facial muscles * Joint pain * Large head * Flat nasal bridge * Broad nasal bridge * Widely[checkorphan.org]
Headache
  • Symptoms - Pyle disease * Asymptomatic * Headache * Vomiting * Irritability * Delayed motor development * Vacant expression * Blindness * Deafness * Paralysis of facial muscles * Joint pain * Large head * Flat nasal bridge * Broad nasal bridge * Widely[checkorphan.org]
Neurologic Manifestation
  • Manifestations of HIV 910 Chapter 77 Gastrointestinal Manifestations of HIV Infection and AIDS 927 Chapter 78 Renal Manifestations of HIV Infection and AIDS 951 Chapter 79 HIV and Endocrine Manifestations 960 Chapter 80 AIDS Associated Malignancies and[books.google.de]

Workup

  • On chest X-ray obtained as part of apnea, workup showed metaphyseal widening and dysplasia. Baby was re-evaluated, and there was no obvious dysmorphism.[mjdrdypu.org]

Treatment

  • Treatment of Sfrp4-deficient mice with a soluble Bmp2 receptor (RAP-661) or with antibodies to sclerostin corrected the cortical-bone defect.[ncbi.nlm.nih.gov]
  • 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 osteotomies healed within 12 weeks when treatment was performed with standard techniques. This information will allow osteotomies to be performed with confidence.[ncbi.nlm.nih.gov]
  • […] of HIV in Industrialized and Middle Income CountriesŠAdults Adolescents and Pediatric 1310 Chapter 115 Guidelines for the Treatment of HIV and AIDS in ResourceLimited Countries 1328 Chapter 116 Guidelines for Prevention of Perinatal HIV Infection 1345[books.google.de]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis - Pyle disease Not supplied. Treatment - Pyle disease Not supplied. Resources - Pyle disease Not supplied.[checkorphan.org]
  • […] polydactyly with skeletal dysplasia usually indicates short rib polydactyly syndrome , chondrodysplasia punctata , or asphyxiating thoracic dysplasia Treatment and prognosis The prognosis is widely variable, ranging from being lethal to very mild cosmetic[radiopaedia.org]

Etiology

  • The etiology of the disease is associated with mutations in the LEMD3 gene. 33 In Van Buchem disease there is an asymmetric enlargement of the jaw during puberty. There are not fractures but it can be pain to the percussion of long bones.[elsevier.es]

Epidemiology

  • Summary Epidemiology To date, less than 30 cases have been reported in the literature.[orpha.net]
  • Relevant External Links for SFRP4 Genetic Association Database (GAD) SFRP4 Human Genome Epidemiology (HuGE) Navigator SFRP4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SFRP4 No data available for Genatlas for SFRP4 Gene Differential[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • Historical Perspective It is named for Murk Jansen. [1] [2] Pathophysiology Jansen's metaphyseal chondrodysplasia is caused by constitutively active mutations in the parathyroid hormone-1 receptor on chromosome 3p21.[wikidoc.org]
  • The pathophysiology of Pyle metaphyseal dysplasia is a defect in metaphyseal remodeling which leads to metaphyseal widening of the long tubular bones with associated cortical thinning and osteoporosis.[mjdrdypu.org]
  • Cranial affection occurs in 38% of cases and can be manifested by atrophy of the optic nerve, glaucoma, subluxation of the eyeball, sensorineural or conductive hearing loss in 15%. 12 The pathophysiology of this lesions is based on nerve compression or[elsevier.es]

Prevention

  • Chapter 69 Surrogate Markers of Antiretroviral Efficacy 826 Overcoming Barriers to Providing ARV Therapy in ResourceLimited Settings 831 Chapter 71 Antiretroviral Drugs for HIV Prevention 836 Chapter 72 Acute HIV Infection 843 Chapter 73 Opportunistic[books.google.de]
  • Although otolaryngological manifestations are rare, we need to keep this disease in mind in order to prevent hearing deterioration by surgical intervention at an early stage.[jstage.jst.go.jp]
  • Prevention - Pyle disease Not supplied. Diagnosis - Pyle disease The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Pyle disease.[checkorphan.org]
  • Mutations in the SFRP4 gene are thought to prevent the production of functional SFRP4 protein. The resulting dysregulation of Wnt signaling leads to the bone abnormalities characteristic of Pyle disease .[ghr.nlm.nih.gov]
  • Pyle’s interests include: electrolyte disorders, hypertension, patient education regarding chronic kidney disease, and promoting a healthy lifestyle to help prevent disease.[cokidneycare.com]

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