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]

Patients may present with dental caries, mandibular prognathism, spinal alignment, and disproportionate limb lengthening. Mental development, physical development, and height are usually normal. [en.wikipedia.org]

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]

• Falling

  If a physician ceases to fall within one of the categories noted, he/she would no longer be listed on the site. [pamf.org]

  Scotia McLeod’s Pyle said that the entire Canadian financial sector is being painted “with a very wide brush,” just as it was in the fall when it largely escaped the troubles that torpedoed several major American and European banks. [thespec.com]

  Former Bears center Mike Pyle, her late husband who died last fall at 76, had a brain riddled with chronic traumatic encephalopathy — dreaded CTE. [chicago.suntimes.com]

• Weakness

  Muscular weakness 0001324 Platyspondyly Flattened vertebrae 0000926 Reduced bone mineral density Low solidness and mass of the bones 0004349 Scoliosis Abnormal curving of the spine 0002650 Thickened calvaria Increased thickness of skull cap Thickened [rarediseases.info.nih.gov]

  "I couldn't resist the temptation to tease Pyle - it is, after all, the weapon of weakness and I was weak." - Graham Greene, The Quiet American 4. " Pyle could see pain when it was in front of his eyes. [aamboli.com]

  It is characterised by genua valga, occasional joint pain, muscular weakness, mild scoliosis, limited elbow extension, malocclusion, and increased tendency to fractures. [whonamedit.com]

  - Metaphyseal Dysplasia (Pyle's Disease) - autosomal recessive disorder which manifests at a variable age; - mild clinical symptoms and signs, including joint pain muscular weakness; - scoliosis, genu valgum deformity, dental / malocclusion and bone [wheelessonline.com]

  Or rather, like with so many facts, he seems to have an idea, and in the time it takes for him to organize the patterns and images into coherent expression, the idea slips away, much as a squirming fish eludes a weak-gripped fisherman’s hand. [silverado.com]

• Collapse

  Such stories included the 2007 Minneapolis bridge collapse, in which 13 people were killed and 145 injured when the Interstate 35W bridge broke apart over the Mississippi River during evening rush hour, and U.S. Sen. [ap.org]

  And then an unspoken sense of gigantic relief-and then a hope that the collapse in Europe would hasten the end in the Pacific. It has been seven months since I heard my last shot in the European War. [greenbaypressgazette.com]

• Jaundice

  Moreover, our patient did not have anemia, jaundice, hepatosplenomegaly, increased bone density or any history of blood transfusion ruling out the latter four possibilities also. [indianpediatrics.net]

• 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]

• Fracture

  Cortical-bone fragility is a common feature in osteoporosis that is linked to nonvertebral fractures. Regulation of cortical-bone homeostasis has proved elusive. [ncbi.nlm.nih.gov]

  In the elderly it is associated with osteoporotic INSUFFICIENCY FRACTURES. [bioportfolio.com]

  From Wikidata Jump to navigation Jump to search osteochondrodysplasia that results in thinning and the tendency to fracture located in bone Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome Pyles dysplasia edit English metaphyseal dysplasia osteochondrodysplasia [wikidata.org]

• Platyspondyly

  Radiographic findings in the spine varied from moderate platyspondyly to the bodies having the appearance of a biconcave lens. [ncbi.nlm.nih.gov]

  […] definition A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly [orpha.net]

  […] by knock knees ( genu valgum ), relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone ( Erlenmeyer flask deformity ), widening of the ribs and collarbones, flattening of the bones of the spine (platyspondyly [rarediseases.info.nih.gov]

  Radiographic findings are widening, scalloping, and irregularity of the metaphysis of long tubular bones, shortness of the femoral neck, progressive coxa vara, severe and diffuse platyspondyly of vertebral bodies, delay in ossification of carpal bones [mjdrdypu.org]

  Mild cranial sclerosis and mild platyspondyly can also be observed. [deepdyve.com]

• Joint Dislocation

  Dislocations, Short Stature, Craniofacial Dysmorphism With Or Without Congenital Heart Defects, Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations AR 99.97% 38 of 38 COL10A1 Metaphyseal Chondrodysplasia Schmid Type AD 96.18% 55 of 55 COL11A1 [igenomix.es]

  bilateral Congenital elbow dislocation, unilateral Congenital genu flexum Congenital genu recurvatum Congenital heart defect-round face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation [se-atlas.de]

• Extension of Elbows Limited

  elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Mandibular prognathia Big lower jaw Increased projection [rarediseases.info.nih.gov]

• Arthralgia

  Late eruption of teeth Late tooth eruption [ more ] 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]

• Pierre Robin Syndrome

  OAV Spectrum Paget's Disease Pendred syndrome Pierre Robin Syndrome Pyle's Disease Refsum's disease Ring 6 Disorder Saddle-Nose syndrome Schiebe aplasia Surcardiac syndrome Tay Sach's Disease Townes-Brock Syndrome Treacher Collins Syndrome Trisomy 13 [californiaearinstitute.com]

  syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse face-macrocephaly-cerebellar [se-atlas.de]

• 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]

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 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]

Both traditional and newer methods of diagnosis and treatment are discussed. The final section describes recent advances including stem cells, lasers, HIV, tumour markers and PET scan. [books.google.com]

[…] 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]

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]

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]

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]

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]

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]

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]

Pyle’s interests include: electrolyte disorders, hypertension, patient education regarding chronic kidney disease, and promoting a healthy lifestyle to help prevent disease. [cokidneycare.com]

[…] in chondrocytes is essential for normal bone growth. https://www.nature.com/articles/s41586-019-0874-3 68 Deep neural network improves fracture detection by clinicians. http://www.pnas.org/content/115/45/11591 67 ANP32A regulates ATM expression and prevents [thelatestscience.com]