Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability

Abstract

The severe form of congenital contractural arachnodactyly is usually associated with early mortality due to multisystem complications. Here, we report a 9-year-old male child with severe skeletal manifestations of congenital contractural arachnodactyly. He had none of the cardiovascular or gastrointestinal features that have been described in severe congenital contractural arachnodactyly. He had profound intellectual disability with autism. All exons of FBN2, the gene associated with congenital contractural arachnodactyly, were sequenced and no disease-causing mutation was found. When severe congenital contractural arachnodactyly is diagnosed in the newborn period, parents need to be aware that long-term survival is possible, particularly if no significant extraskeletal complications are present, and that significant neurodevelopmental delay may occur.

Ocular Phenotype ofFbn2-Null Mice

“…Cardiovascular involvement in CCA can include mitral valve prolapse and aortic root enlargement. 6 Although ocular symptoms appear less ubiquitous in CCA than in MFS, several ophthalmological case reports have noted the sporadic occurrence of anterior segment pathology in CCA patients including megalocornea, 7 keratoconus, 6,8 iridodonesis, 7 ectopia lentis, 9 iris 10,11 and lens 12 coloboma, ciliary body hypoplasia, 12 and high myopia. [12][13][14][15][16][17] Radiation-induced and spontaneous mutations in Fbn2 have been identified in mice.…”