title: Autosomal recessive cutis laxa in two siblings associated with blue sclera.
abstract: Cutis laxa is a clinical entity found in a heterogeneous group of genetic and acquired disorders characterized by premature aging of the skin with normal wound healing. We report two siblings born of consanguineous parents who presented with growth retardation, delayed developmental milestones, and the classical phenotypic manifestations of type 2 recessive cutis laxa. They showed remarkable blue sclera, which to our knowledge has not been reported previously in cutis laxa.
authors.affiliation: Department of Pediatrics, School of Medicine, Karadeniz Technical University, Trabzon, Turkey. aysenurokten@meds.ktu.edu.tr
authors.forename: Ilknur
authors.initials: I
authors.lastname: Girisgen
authors.forename: Ilke
authors.initials: I
authors.lastname: Mungan
authors.forename: Murat
authors.initials: M
authors.lastname: Cakir
authors.forename: Safak
authors.initials: S
authors.lastname: Ersoz
authors.forename: Ayşenur
authors.initials: A
authors.lastname: Okten
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D003483:Cutis Laxa / Q000151:congenital / Q000175:diagnosis*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D012590:Sclera / Q000002:abnormalities*