title: Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence?
abstract: Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal-dominant connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. Although it is a connective tissue disorder affecting bone structure and formation, coexistence of bony fractures in CCA patients have not been reported before. In this article we report a newborn infant diagnosed with CCA who developed a femoral fracture possibly due to abnormal bone structure and birth injury in spite of cesarean delivery.
authors.affiliation: Department of Pediatrics, Hacettepe University Ihsan Doğramaci Children's Hospital, Ayranci 06690, Ankara, Turkey.
authors.forename: Serhan
authors.initials: S
authors.lastname: Küpeli
authors.forename: Ayşe
authors.initials: A
authors.lastname: Korkmaz
authors.forename: Almila
authors.initials: A
authors.lastname: Bulun
authors.forename: Murat
authors.initials: M
authors.lastname: Yurdakök
authors.forename: Ergül
authors.initials: E
authors.lastname: Tunçbilek
mesh_terms: D000328:Adult; D002585:Cesarean Section; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005264:Femoral Fractures / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D011247:Pregnancy