A clinical scoring system for congenital contractural arachnodactyly

Congenital contractural arachnodactyly.

arachnodactyly for this condition(l). CCA is characterized by multiple contractures, dolichostenomelia, scoliosis, arachnodactyly and external ear anomalies(l,2). This new syndrome contrasted with Marfan by the absence of eye and heart anomalies(l,2) but with increasing number of cases reported, occasional association of cardiovascular and ocular anomalies have been reported in patients with CC...

Congenital contractural arachnodactyly (Beals syndrome)

Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint co...

Cardiac anomalies complicating congenital contractural arachnodactyly.

A newborn boy with congenital contractural arachnodactyly (CCA) was found to have an atrial septal defect, ventricular septal defect, patent ductus arteriosus, and aortic arch anomalies. These resulted in congestive failure but subsequent progressive dilatation of both great arteries and development of aortic regurgitation were associated with eventual cardiorespiratory failure and death at 11....

Contractural arachnodactyly versus Marfan's syndrome.

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report.

We report the case of a 3-(1/2)-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzymes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated ...