title: Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder.
abstract: Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome (BHS) presents a very rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, contractures, and scoliosis. In our case report, the physical examination revealed typical physical findings to determine the physical diagnosis of BHS in contrast to negative finding on DNA analysis. From clinical point-of-view, it is important to include a complex clinical approach in making the diagnosis.
authors.affiliation: Pediatric Cardiology Clinic, Jessenius Faculty of Medicine, Comenius University, Kollarova 13, 03601, Martin, Slovakia. ltvsro@gmail.com
authors.forename: Alexander
authors.initials: A
authors.lastname: Jurko
authors.forename: Jana
authors.initials: J
authors.lastname: Krsiakova
authors.forename: Milan
authors.initials: M
authors.lastname: Minarik
authors.forename: Ingrid
authors.initials: I
authors.lastname: Tonhajzerova
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D054119:Arachnodactyly / Q000175:diagnosis*; D002675:Child, Preschool; D003240:Connective Tissue Diseases / Q000151:congenital*; D003286:Contracture / Q000175:diagnosis*; D006801:Humans; D008297:Male; D035583:Rare Diseases / Q000175:diagnosis