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
Arthropathy-Camptodactyly Syndrome; Congenital Familial
Hypertrophic Synovitis; Familial Fibrosing Serositis;
Pericarditis-Arthropathy-Camptodactyly Coxa-Vara Syndrome.
Autosomal recessive; locus resides on
Synovial cell hyperplasia, fibrosis of
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).
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
Precautions before Anesthesia
Assess temporomandibular involvement
(if any), neck movements, and mouth opening. Assess presence of pericardial
and pleural effusions: chest radiography, echocardiography, ECG.
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.
Intraoperative supplementation of
corticosteroids must be considered in patients receiving chronic therapy.
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
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).
11q-Deletion Syndrome; Partial 11q Monosomy Syndrome.
Approximately 1:100,000 live births.
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
The exact cause of this chromosomal deletion and
triplet expansion is unknown.
Based on clinical criteria and laboratory demonstration
of the ...