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
Jul 1, 1978·The Journal of Pediatrics·M A GruberC Smith
Mar 1, 1991·Clinical Genetics·D ViljoenD Behari
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
Jan 1, 1985·European Journal of Pediatrics·P TammingaJ W Oorthuys
Jun 1, 1985·Southern Medical Journal·R E Bell, J J Wheller
Jun 1, 1985·Clinical Genetics·M A Ramos ArroyoR K Beals
Jan 1, 1974·Zeitschrift Für Kinderheilkunde·E H LipsonJ Herrmann
Aug 1, 1994·Journal of Medical Genetics·D Viljoen
Jul 1, 1993·Clinical Genetics·T BistritzerM Goldberg
Jun 16, 2001·Arquivos de neuro-psiquiatria·R H ScolaY Correa Neto
Dec 26, 2001·Human Mutation·Prateek A GuptaDianna M Milewicz
May 4, 2004·Journal of Medical Genetics·P A GuptaD M Milewicz
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
Citations
Sep 17, 2013·Gene·Chih-Ping ChenWayseen Wang
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