Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence?
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.
Küpeli
Serhan
S
Department of Pediatrics, Hacettepe University Ihsan Doğramaci Children's Hospital, Ayranci 06690, Ankara, Turkey.
Korkmaz
Ayşe
A
Bulun
Almila
A
Yurdakök
Murat
M
Tunçbilek
Ergül
E
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