Congenital Contractural Arachnodactyly; two unrelated newborns with novel clinical findings

• DOI: 10.21601/ejbms/9181
• Publication Date: 2021-04-01T17:53:26Z
• Authors: İbrahim Akalın; Didem Armangil; Esad Köklü
• Keywords: Arachnodactyly; Kyphoscoliosis; Ectopia lentis; Camptodactyly; Ankylosis

Congenital Contractural Arachnodactyly (CCA; Beals syndrome) is a rare autosomal dominant disorder of connective tissue. CCA represents similar phenotypical features Marfan syndrome such as tall stature and arachnodactyly, with contrasting multiple joint contractures involving elbows, knees even fingers typical crumpled ear helices. Here, we present two separate newborns representing novel findings retinal hemorrhage, bilateral simian lines cryptorchism in addition to classical findings. However, pedigree analyses patients were suggesting somatic mosaicism the represented distinct syndrome; one milder phenotype lack helices, other severe vertebral kyphoscoliosis.