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Congenital contractural arachnodactyly (Beals syndrome)

Authors
  • Tunçbilek, Ergül1
  • Alanay, Yasemin1
  • 1 Hacettepe University, Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Sihhiye, Ankara, 06100, Turkey , Sihhiye
Type
Published Article
Journal
Orphanet Journal of Rare Diseases
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Jun 01, 2006
Volume
1
Issue
1
Identifiers
DOI: 10.1186/1750-1172-1-20
Source
Springer Nature
Keywords
License
Green

Abstract

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 contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended.

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