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

Clinical Dysmorphology
Katie M G SnapeMartin B Delatycki

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.

References

Jun 1, 1979·American Journal of Diseases of Children·N K Ho, T K Khoo
May 1, 1979·Arthritis and Rheumatism·R T Mirise, S Shear
Oct 1, 1991·Archives of Disease in Childhood·A J MacnabM W Patterson
Dec 1, 1986·American Journal of Medical Genetics·G Currarino, J M Friedman
Jun 1, 1985·Southern Medical Journal·R E Bell, J J Wheller
Aug 1, 1994·Journal of Medical Genetics·D Viljoen
Jun 16, 2001·Arquivos de neuro-psiquiatria·R H ScolaY Correa Neto
Jan 25, 2005·American Journal of Medical Genetics. Part a·Cecilia GiuntaBeat Steinmann
Dec 6, 2005·American Journal of Medical Genetics. Part a·Nobuko KanemotoNaomichi Matsumoto

❮ Previous
Next ❯

Citations

Jun 29, 2016·The Cochrane Database of Systematic Reviews·Klaus LindeAdrian R White
Feb 12, 2021·European Journal of Medical Genetics·Katja KlothAlexander E Volk

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.