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J M Cantu - One of the best experts on this subject based on the ideXlab platform.
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guadalajara Camptodactyly syndrome a distinct probably autosomal recessive disorder
2008Co-Authors: J M Cantu, H Rivera, Z Nazara, Q Rojas, A Hernandez, D GarciacruzAbstract:: Two sisters, aged 18 and 11 years, were found to have an intrauterine growth retardation-malformation syndrome which included Camptodactyly as a typical sign. The overall analysis of the clinical and radiological findings permitted the individualization of a distinct entity. The family data suggested autosomal recessive inheritance.
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guadalajara Camptodactyly syndrome type ii
2008Co-Authors: J M Cantu, Z Nazara, D Garciacruz, J Gilviera, M L Ramirez, M T Solepujol, Jose SanchezcoronaAbstract:Two sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, Camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygocity from an autosomal recessive gene.
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guadalajara Camptodactyly syndrome type i a corroborative family
1993Co-Authors: L E Figuera, D Garciacruz, Maria De Lourdes Ramirezduenas, V Villar, J M CantuAbstract:Three sibs, two girls aged 18 and 9 years, and a 7-year-old boy, were found to have Guadalajara Camptodactyly syndrome type I (GCSI). They had intrauterine growth retardation, dwarfism, peculiar facial appearance, Camptodactyly and skeletal anomalies. Comparison with other Camptodactyly syndromes led to the conclusion that the patients had the same disorder as the two first reported patients with GCSI. The clinical and radiological concordance in the five patients permits further delineation of GCSI and corroboration of its autosomal recessive inheritance.
D Garciacruz - One of the best experts on this subject based on the ideXlab platform.
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guadalajara Camptodactyly syndrome a distinct probably autosomal recessive disorder
2008Co-Authors: J M Cantu, H Rivera, Z Nazara, Q Rojas, A Hernandez, D GarciacruzAbstract:: Two sisters, aged 18 and 11 years, were found to have an intrauterine growth retardation-malformation syndrome which included Camptodactyly as a typical sign. The overall analysis of the clinical and radiological findings permitted the individualization of a distinct entity. The family data suggested autosomal recessive inheritance.
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guadalajara Camptodactyly syndrome type ii
2008Co-Authors: J M Cantu, Z Nazara, D Garciacruz, J Gilviera, M L Ramirez, M T Solepujol, Jose SanchezcoronaAbstract:Two sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, Camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygocity from an autosomal recessive gene.
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guadalajara Camptodactyly syndrome type i a corroborative family
1993Co-Authors: L E Figuera, D Garciacruz, Maria De Lourdes Ramirezduenas, V Villar, J M CantuAbstract:Three sibs, two girls aged 18 and 9 years, and a 7-year-old boy, were found to have Guadalajara Camptodactyly syndrome type I (GCSI). They had intrauterine growth retardation, dwarfism, peculiar facial appearance, Camptodactyly and skeletal anomalies. Comparison with other Camptodactyly syndromes led to the conclusion that the patients had the same disorder as the two first reported patients with GCSI. The clinical and radiological concordance in the five patients permits further delineation of GCSI and corroboration of its autosomal recessive inheritance.
Atil Bisgin - One of the best experts on this subject based on the ideXlab platform.
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Camptodactyly arthropathy coxa vara pericarditis syndrome resembling juvenile idiopathic arthritis a single center experience from southern turkey
2021Co-Authors: Rabia Miray Kisla Ekinci, Sibel Balci, Haldun Dogan, Serdar Ceylaner, Celal Varan, Sevcan Erdem, Fatma Coban, Atil BisginAbstract:Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the PRG4 gene, is characterized by early-onset Camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. Herein, we report 3 patients with CACP syndrome from 2 unrelated families. All patients are female, born to consanguineous parents, and had Camptodactyly since the first years of their lives. Two patients had a prior diagnosis of juvenile idiopathic arthritis. Hip changes were present in 2 patients, and 2 of 3 patients had undergone surgery for Camptodactyly. Routine echocardiographic evaluations were normal during the 2-year follow-up. This paper represents the third study including CACP patients from Turkey. Clinically, all 3 patients resembled juvenile idiopathic arthritis cases and received unnecessary medication. There is also an ongoing need for improving awareness of CACP and an effective treatment focusing on the lubrication of the joint space in CACP patients.
Sulaiman M Almayouf - One of the best experts on this subject based on the ideXlab platform.
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Camptodactyly arthropathy coxavara pericarditis syndrome in saudi arabia clinical and molecular genetic findings in 22 patients
2013Co-Authors: Intisar Albuhairan, Sulaiman M AlmayoufAbstract:Abstract Background Camptodactyly-arthropathy-coxavara-pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in the gene proteoglycan 4 (PRG4), affecting lubricin production, which is an essential protein for joint function. Manifestations vary between affected individuals with Camptodactyly, early-onsetnon-inflammatory arthropathy, coxa vara deformity and non-inflammatory pericarditis. Objective To describe the clinical, laboratory, radiological and genetic findings of CACP syndrome in children from Saudi Arabia. Methods Medical records of all the children with CACP syndrome seen between June 1990 and June 2012 at King Faisal Specialist Hospital and Research Center, Riyadh were reviewed. The data include gender , age of first disease manifestations , referral diagnosis, clinical and radiological features, and molecular genetic studies as well as functional status at the last follow-upvisit. Results Twenty-two patients (15 boys), (clinical and genetic data of 15 patients were previously published) with mean age at diagnosis 3.7 (1–14) years, were included in this cohort study. The referral diagnosis was inaccurate in all patients; juvenile idiopathic arthritis (JIA) was the referral diagnosis in majority of the patients. Six families had more than one affected child. Camptodactyly and large joints arthropathy were present in all the cases. Camptodactyly was observed in the neonatal period in all the patients, while other joint involvement was observed through the 1st year of life. All patients had a normal cardiac evaluation but two children had evidence of pericarditis. All patients had normal inflammatory markers and the result for rheumatoid factor test was negative. Radiological findings included coxa vara with a short femoral neck and flat, irregular femoral heads and intra-osseous cysts, increased joint space, and abnormal modeling of the acetabulum with small iliac wings. Other joints (knees, ankle, elbow and wrist) showed soft-tissue swelling consistent with thick cartilage and abnormal modeling with evidence of intra-articular fluid in majority of the patients. Synovial biopsy from three patients revealed proliferating synovial epithelium with moderate fibro-collagenous densities and multinucleated giant cells, occasional lymphocytes or neutrophils were identified. Previously, a locus responsible for causing CACP syndrome has been reported in eight patients of our cohort; it has been assigned to 1q25-q31. Furthermore, in seven newly diagnosed patients from four unrelated families, five novel mutations were found. All patients were referred to us while they were on NSAIDs, 10 patients used antirheumatic drugs (prednisone and methotrexate) and two patients were treated with etanercept. In all patients, treatment was ineffective apart from mild pain relief. Conclusion CACP syndrome is an autosomal recessive disorder occurring due to mutations in the gene PRG4 encoding lubricin; it is not an uncommon disorder in Saudi Arabia. Pericarditis is rarely seen in our patients. Our data suggest that CACP syndrome may be easily confused with JIA, causing a delay in diagnosis and probably unnecessary treatment with antirheumatic drugs including biologic agents.
C. Cargnelutti - One of the best experts on this subject based on the ideXlab platform.
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Camptodactyly: early nonoperative treatment
2013Co-Authors: G. Pajardi, C. Parolo, G. Proserpio, V. Ponti, P. Rossi, C. CargneluttiAbstract:Purpose: To analyse the classifications and the conservative protocols used by hand surgery operative’s units and published in the last 15 years. To draw a comparison between those classifications and protocols and the ones used in our unit. Material and Methods: The published conservative treatments have been analysed and then our protocol has been described through the analysis of three cases currently treated in our division. Results: It has been highlighted that Camptodactyly classifications are not homogeneous. Moreover, in conservative treatment, different typology and posology of splints have been adopted. Our unit uses the Foucher’s classification to define the type of splint that it is necessary. Conclusions: Despite the authors choose different types of splint, they agree that in the most cases of camptodactily the initial approach is conservative. In our unit static and dynamic splints are made directly on the patient’s hand and they are monitored with goniometrical measurements, obtaining great results
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Il trattamento conservativo precoce nella Camptodattilia = Camptodactyly : early nonoperative treatment
2013Co-Authors: G. Pajardi, C. Parolo, G. Proserpio, V. Ponti, P. Rossi, C. CargneluttiAbstract:Scopo: Approfondimento delle classificazioni e dei protocolli conservativi utilizzati dalle unità operative di chirurgia della mano e pubblicati negli ultimi 15 anni. Confronto con la classificazione ed il protocollo utilizzati nel nostro reparto. Materiali e metodi: Si sono analizzati i protocolli conservativi pubblicati e si è poi descritto il nostro protocollo attraverso l’analisi di tre casi attualmente in trattamento. Risultati: Si è evidenziata una disomogeneità nella classificazione delle camptodattilie e nell’utilizzo dei tutori, sia per tipologia che per modalità di utilizzo. Il nostro reparto si avvale della classificazione di Foucher per determinare la scelta del tipo di tutore. Conclusioni: Anche se la tipologia di tutore non è sempre la stessa, tutti gli autori concordano che, nella maggioranza delle camptodattilie sia importante cominciare con l’approccio conservativo. Nel nostro reparto vengono confezionati tutori statici o dinamici in base al tipo di camptodattilia e viene monitorato costantemente l’andamento tramite misurazioni goniometriche, con ottimi risultati.Purpose: To analyse the classifications and the conservative protocols used by hand surgery operative’s units and published in the last 15 years. To draw a comparison between those classifications and protocols and the ones used in our unit. Material and Methods: The published conservative treatments have been analysed and then our protocol has been described through the analysis of three cases currently treated in our division. Results: It has been highlighted that Camptodactyly classifications are not homogeneous. Moreover, in conservative treatment, different typology and posology of splints have been adopted. Our unit uses the Foucher’s classification to define the type of splint that it is necessary. Conclusions: Despite the authors choose different types of splint, they agree that in the most cases of camptodactily the initial approach is conservative. In our unit static and dynamic splints are made directly on the patient’s hand and they are monitored with goniometrical measurements, obtaining great results
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Il trattamento conservativo precoce nella Camptodattilia = Camptodactyly : early nonoperative treatment
2013Co-Authors: G. Pajardi, C. Parolo, G. Proserpio, V. Ponti, P. Rossi, C. CargneluttiAbstract:Scopo: Approfondimento delle classificazioni e dei protocolli conservativi utilizzati dalle unit\ue0 operative di chirurgia della mano e pubblicati negli ultimi 15 anni. Confronto con la classificazione ed il protocollo utilizzati nel nostro reparto. Materiali e metodi: Si sono analizzati i protocolli conservativi pubblicati e si \ue8 poi descritto il nostro protocollo attraverso l\u2019analisi di tre casi attualmente in trattamento. Risultati: Si \ue8 evidenziata una disomogeneit\ue0 nella classificazione delle camptodattilie e nell\u2019utilizzo dei tutori, sia per tipologia che per modalit\ue0 di utilizzo. Il nostro reparto si avvale della classificazione di Foucher per determinare la scelta del tipo di tutore. Conclusioni: Anche se la tipologia di tutore non \ue8 sempre la stessa, tutti gli autori concordano che, nella maggioranza delle camptodattilie sia importante cominciare con l\u2019approccio conservativo. Nel nostro reparto vengono confezionati tutori statici o dinamici in base al tipo di camptodattilia e viene monitorato costantemente l\u2019andamento tramite misurazioni goniometriche, con ottimi risultati.Purpose: To analyse the classifications and the conservative protocols used by hand surgery operative\u2019s units and published in the last 15 years. To draw a comparison between those classifications and protocols and the ones used in our unit. Material and Methods: The published conservative treatments have been analysed and then our protocol has been described through the analysis of three cases currently treated in our division. Results: It has been highlighted that Camptodactyly classifications are not homogeneous. Moreover, in conservative treatment, different typology and posology of splints have been adopted. Our unit uses the Foucher\u2019s classification to define the type of splint that it is necessary. Conclusions: Despite the authors choose different types of splint, they agree that in the most cases of camptodactily the initial approach is conservative. In our unit static and dynamic splints are made directly on the patient\u2019s hand and they are monitored with goniometrical measurements, obtaining great results