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At a Glance

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Camptodactyly is usually present at birth or surely noticed within the first year of life. Arthropathy typically develops between 3 and 8 years of age. A noninflammatory constrictive pericarditis is often present in the first or second decade of life and may lead to pericardial effusion.

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Synonyms

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Arthropathy-Camptodactyly Syndrome; Congenital Familial Hypertrophic Synovitis; Familial Fibrosing Serositis; Pericarditis-Arthropathy-Camptodactyly Coxa-Vara Syndrome.

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Genetic Inheritance

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Autosomal recessive; locus resides on chromosome 1q25-q31.

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Pathophysiology

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Synovial cell hyperplasia, fibrosis of pericardium.

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Diagnosis

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Histologic examination of synovium shows prominent fibrosis and cell infiltration. Radiologic evidence of flattened metacarpal and metatarsal heads and flattened proximal femoral ossification center. Normal erythrocyte sedimentation rate (ESR).

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Clinical Aspects

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Childhood-onset noninflammatory arthritis. Congenital finger flexion contractures. Constrictive pericarditis and pleuritis may occur especially when associated with severe effusion. It may lead to organ function restriction. Sedimentation rate is normal. Elbow and wrist contractures may be associated.

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Precautions before Anesthesia

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Assess temporomandibular involvement (if any), neck movements, and mouth opening. Assess presence of pericardial and pleural effusions: chest radiography, echocardiography, ECG.

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Anesthetic Considerations

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Arthritis usually affects the large joints and hands and contractures may be present. It could be affecting patient during positioning. Pericardial and/or pleural effusion may be present. If so, the anesthetic must be tailored to avoid affecting preload and heart rate.

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Pharmacological Implications

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Intraoperative supplementation of corticosteroids must be considered in patients receiving chronic therapy.

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References

Verma UN, Misra R, Radhakrisnan S, et al: A syndrome of fibrosing pleuritis, pericarditis and synovitis with infantile contractures of fingers and toes in 2 sisters: “Familial fibrosing serositis.” J Rheum 22:2349, 1995.  [PubMed: 8835575]

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At a Glance

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Chromosome 11, partial monosomy 11q is characterized by abnormally prenatal and postnatal growth retardation, mental retardation, psychomotor retardation, craniofacial anomalies, ocular abnormalities, malformations of the hands and/or feet, and congenital heart defects (e.g., ventricular septal defect).

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Synonyms

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11q-Deletion Syndrome; Partial 11q Monosomy Syndrome.

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Incidence

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Approximately 1:100,000 live births.

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Genetic Inheritance

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Autosomal dominant. Parent may carry a complete but fragile 11q chromosome. Folate deficient chromosome breakage may occur in early development, leading to full Jacobsen phenotypes. The parent may not carry the syndrome despite autosomal dominant transmission. Chromosomal deletion leading to CCG repeat triplets and multiorgan involvement.

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Pathophysiology

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The exact cause of this chromosomal deletion and triplet expansion is unknown.

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Diagnosis

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Based on clinical criteria and laboratory demonstration of the ...

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