Molekulárně genetická diagnostika vrozené kontrakturální arachnodaktylie a komplexní léčba české dívky
Abstrakt
The authors summarize the findings of Congenital contractual arachnodactyly (Beals-Hecht syndrome) and present clinical, radiographic and molecular genetic findings and results of surgical therapy and rehabilitation in a Czech girl followed interdisciplinarily (orthopedic and plastic surgeon, cardiologist, anthropologist, osteologist, geneticist and physiotherapist) from 3 years of age to adulthood. The diagnosis of severe congenital contractural arachnodactyly was established after birth on the basis of clinical-genetic examination at the Pediatric Clinic of the University Hospital Hradec Kralove.
Associated anomalies of the cardiovascular, respiratory, digestive, urogenital, nervous systems, etc. were excluded. The current molecular genetic analysis of blood and bone tissue samples of the patient revealed the same pathogenic intronic variant c.3724+2T>C (rs863223570) in the FBN2 gene in heterozygous state, which is causative in our patient.
The inheritance of the identified mutation is autosomal dominant. This case report extends the clinical experience and molecular genetic findings of BealsHecht syndrome.