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]

• 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]

• 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]

• Genu Valgum

  Genu valgum, one of the few clinical findings in this disease, may warrant surgical intervention. Postoperative healing is documented only in Pyle's original patient. [ncbi.nlm.nih.gov]

  Clinical phenotype includes genu valgum of variable severity, metaphyseal fractures because of cortical thinning, and teeth problems (prolonged retention, delayed eruption, misalignment, caries). [deepdyve.com]

  Disease 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 [orpha.net]

  Along with these roentgenographic changes, there may be few clinical signs and symptoms like muscle weakness, joint pain, genu valgum, scoliosis, and limited extension of elbow. [indianpediatrics.net]

  Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles. Bones can sometimes be fragile, but fracturing is usually not common. [en.wikipedia.org]

• Osteoporosis

  This may be attributed to two main causes: (1) a defect in the modelling process of the vertebrae (comparable to that observed in the metaphyses) and (2) chronic pathological fractures secondary to osteoporosis (a typical feature of Pyle's disease). [ncbi.nlm.nih.gov]

  […] infection after hip replacement: a prospective observational cohort study. https://www.thelancet.com/journals/laninf/article/PIIS1473-3099(18)30345-1/fulltext 65 Effects of teriparatide and risedronate on new fractures in post-menopausal women with severe osteoporosis [thelatestscience.com]

  Bone densitometry was suggestive of osteoporosis (z score-5.3). Based on clinical features and radiological findings, we made a diagnosis of Pyle metaphyseal dysplasia. Fig. 1. [indianpediatrics.net]

• Lordosis

  […] genu varum may be severe in the Schmid type. - Schmid type: - this disorder may arise from defective type X collagen, which is typically found in the hypertrophic zone of the physis; - patients show mild short sature, leg pains, bowed legs, increased lordosis [wheelessonline.com]

  […] fracture with delayed consolidation. 14 It has been described a typical disease phenotype characterized by craniomegaly with prominent forehead, exophthalmos, slender limbs with thick and curved bones, marfanoid aspect, flat and valgus feet, lumbar lordosis [elsevier.es]

• 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]

• Psychomotor Retardation

  retardation due to S-adenosylhomocysteine hydrolase deficiency Pterygium colli-intellectual disability-digital anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyruvate dehydrogenase [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]