The Experts below are selected from a list of 246 Experts worldwide ranked by ideXlab platform
Christine Hall - One of the best experts on this subject based on the ideXlab platform.
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camptodactyly arthropathy Coxa Vara pericarditis syndrome versus juvenile idiopathic arthropathy
American Journal of Roentgenology, 2005Co-Authors: Amaka C Offiah, Anne-marie Prieur, P Woo, Nathan Hasson, Christine HallAbstract:OBJECTIVE. The objective of our article was to highlight the important clinical and radiographic features of camptodactyly-arthropathy-Coxa Vara-pericarditis (CACP) syndrome. In particular, we emphasize those features that allow differentiation of CACP syndrome from juvenile idiopathic arthropathy.CONCLUSION. CACP syndrome should be considered in all patients who present with a noninflammatory arthropathy or with “atypical juvenile idiopathic arthritis,” particularly if radiographs reveal an absence of erosions. In the correct clinical setting, large acetabular cysts on pelvic radiographs may be considered pathognomonic of CACP syndrome.
John A. Herring - One of the best experts on this subject based on the ideXlab platform.
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Developmental Coxa Vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.
Pediatric radiology, 2000Co-Authors: Guido Currarino, John G. Birch, John A. HerringAbstract:Background. This paper reports three children with short stature: developmental Coxa Vara unilateral in the first case and bilateral in the other two; somewhat squared and “ovoid” vertebral bodies in the first patient, and normal to slightly tall vertebral bodies in the third; metaphyseal changes in some long tubular bones including bone fragments similar to the corner fractures seen in child abuse in all three patients.¶Materials and methods. The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral “Coxa Vara”; their brother, also of short stature, had bilateral Coxa valga with otherwise normal femoral heads and necks, and mild metaphyseal changes associated with two minute “corner fractures” in the proximal metaphysis of the left tibia.¶Results. A review of reported cases of developmental Coxa Vara associated with spondylometaphyseal dysplasia revealed that simulated corner fractures were present in most instances.
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developmental Coxa Vara associated with spondylometaphyseal dysplasia dcv smd smd corner fracture type dcv smd cf demonstrated in most reported cases
Pediatric Radiology, 2000Co-Authors: Guido Currarino, John G. Birch, John A. HerringAbstract:Background. This paper reports three children with short stature: developmental Coxa Vara unilateral in the first case and bilateral in the other two; somewhat squared and “ovoid” vertebral bodies in the first patient, and normal to slightly tall vertebral bodies in the third; metaphyseal changes in some long tubular bones including bone fragments similar to the corner fractures seen in child abuse in all three patients.¶Materials and methods. The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral “Coxa Vara”; their brother, also of short stature, had bilateral Coxa valga with otherwise normal femoral heads and necks, and mild metaphyseal changes associated with two minute “corner fractures” in the proximal metaphysis of the left tibia.¶Results. A review of reported cases of developmental Coxa Vara associated with spondylometaphyseal dysplasia revealed that simulated corner fractures were present in most instances.
Witold Szulc - One of the best experts on this subject based on the ideXlab platform.
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Coxa Vara infantum, hip growth disturbances, etiopathogenesis, and long-term results of treatment.
Clinical orthopaedics and related research, 1991Co-Authors: Jan Serafin, Witold SzulcAbstract:The literature concerning Coxa Vara infantum (CVI) contains only a few long-term follow-up reports of the treatment. This study was performed to define the clinical and roentgenographic features of Coxa Vara infantum (CVI) in children and skeletally mature patients. Special attention was given in follow-up evaluations to the growth and impairment of the hip joint (acetabulum, femoral head, and neck) before and after operative treatment in different age groups. Because in difficult cases the results of subtrochanteric osteotomy have not been satisfactory and have led to recurrences, the use of overcorrecting of the neck-shaft angle value into valgus position has been adopted. To gain further insight into etiopathogenesis of CVI, histologic investigations were carried out. These investigations revealed growth and endochondral ossification disorders. Similar changes found in the growth zone of the iliac bone seem to indicate that the ossification disturbances are multifocal. Expansion of the fibrous connective and calluslike tissues is evidence of the overload syndrome in CVI.
Zhiming Lin - One of the best experts on this subject based on the ideXlab platform.
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AB0908 A Novel Mutation in Proteoglycan-4 Underlies Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome in A Chinese Family
Annals of the Rheumatic Diseases, 2016Co-Authors: Q. Jun, Peng Zhang, Zhiming LinAbstract:Background Camptodactyly-arthropathy-Coxa-Vara-pericarditis (CACP) syndrome is an autosomal recessive condition characterized by the association of congenital or early onset camptodactyly and noninflammatory arthropathy, it can also affect the pericardium. CACP syndrome is caused by mutations in proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Several cases were described in the literature from ethnically different populations including Caucasian, Egyptian, Saudi Arabian, Pakistani, Indian and Korean. Objectives We undertook this study to genetically screen a Chinese family segregating CACP in an autosomal recessive manner. Methods To screen for mutation in PRG4 gene, all coding exons and exon-intron junctions were sequenced using ABI prism 3730 automated DNA sequencer. Results Sequence analysis of PRG4 gene in affected individual of the family presented here revealed one base insertion (exon 9, c.3755_3756insT) predicting a frame shift mutation (p.Lys1253fs*1). Sequencing of PRG4 exon 9 in the parents showed that the father was a heterozygous carrier of the c.3755_3756insT mutation, but the mother did not have this alteration. To our knowledge, this is probably the first mutation identified in PRG4 gene in Chinese population. Conclusions We described a novel insertion mutation in PRG4 gene in a Chinese family with CACP. References Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM, Warman ML. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-Coxa Vara-pericarditis syndrome. Nature genetics 1999, 23 (3), 319–22. Choi BR, Lim YH, Joo KB, Paik SS, Kim NS, Lee JK, Yoo DH. Camptodactyly, arthropathy, Coxa Vara, pericarditis (CACP)syndrome: a case report. Journal of Korean medical science 2004, 19 (6), 907–10. Basit S, Iqbal Z, Umicevic-Mirkov M, Kamran Ul-Hassan Naqvi S, Coenen M, Ansar M, van Bokhoven H, Ahmad W. A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-Coxa-Vara-pericarditis syndrome in a consanguineous pakistani family. Archives of medical research 2011, 42 (2), 110–4. Akawi NA, Ali BR, Al-Gazali L. A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-Coxa Vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract. Birth defects research. Part A, Clinical and molecular teratology 2012, 94 (7), 553–6. Nandagopalan RS, Phadke SR, Dalal AB, Ranganath P. Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-Coxa Vara-pericarditis (CACP) syndrome. The Indian journal of medical research 2014, 140 (2), 221–6. Ciullini Mannurita S, Vignoli M, Bianchi L, Kondi A, Gerloni V, Breda L, Ten Cate R, Alessio M, Ravelli A, Falcini F, Gambineri E. CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort. European journal of human genetics: EJHG 2014, 22 (2), 197–201 Disclosure of Interest None declared
Eric C. Riddle - One of the best experts on this subject based on the ideXlab platform.
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Coxa Vara: a novel measurement technique in skeletal dysplasias.
Clinical orthopaedics and related research, 2006Co-Authors: Mihir M. Thacker, William G. Mackenzie, Eric C. RiddleAbstract:Coxa Vara can be a progressive deformity in children with skeletal dysplasia. Preoperative anteroposterior pelvic radiographs of 30 children with spondyloepiphyseal dysplasia congenita and spondyloepimetaphyseal dysplasia were used to test the reliability of a new radiographic measure of Coxa Vara, the Hilgenreiner-trochanteric angle. An additional 10 patients (20 hips) with Coxa Vara deformities needing valgus-producing proximal femoral osteotomies also were reviewed. Interobserver reliability with plain radiographs was 0.929 for the left side and 0.914 for the right side using interclass correlation coefficients. Intraobserver reliability also was high, with an interclass correlation coefficient of 0.875. Twelve hips corrected by osteotomy had adequate ossification to measure the Hilgenreiner-epiphyseal angle, head-shaft angle, and Hilgenreiner-trochanteric angle. Only one of these hips had a recurrence. The results were good in all of the other ossified hips. Eight hips had limited ossification; only two of these hips maintained acceptable alignment. Six hips had less postoperative correction and progressive deformity at the final followup. We present a novel measurement technique to determine the degree of Coxa Vara deformity in children with delayed or absent ossification of the capital femoral epiphysis. Level of Evidence: Diagnostic studies- Level III-1 (Study of nonconsecutive patients; without consistently applied reference "gold" standard. See the Guidelines for Authors for a complete description of levels of evidence.
