Current Pediatric Research

- Current Pediatric Research (2012) Volume 16, Issue 1

Beals syndrome (Congenital contractural arachnodactly) with choroid plexus cyst

Beals syndrome or Congenital contractural arachnodactly (CCA) is an autosomal dominantly inherited connective tissue disorder caused by a mutation in FBN2 gene on chromosome 5q23 and is characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinna and muscular hypoplasia. Multiple joint contractures (especially finger joints), and crumpled ears in the absence of significant aortic root dilatation help to differentiate it from Marfan syndrome with which it bears close clinical resemblance. We describe Beals syndrome in a newborn baby with choroid plexus cyst .

Author(s): Rojo Joy, Femitha P, Bahuballi, Adhisivam B, Vishnu Bhat B

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