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Autosomal Recessive Cutis Laxa in Two Siblings Associated with Blue Sclera
Author(s) -
Girisgen Ilknur,
Mungan Ilke,
Cakir Murat,
Ersoz Safak,
Okten Ayşenur
Publication year - 2007
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2007.00384.x
Subject(s) - cutis laxa , medicine , sclera , dermatology , cutis , ophthalmology
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.