OVERVIEW: What every practitioner needs to know Are you sure your patient has cutis laxa? What are the typical findings for this disease? Cutis Laxa is a hereditary disorder of connective tissue typified by wrinkled, furrowed skin and multiple non-cutaneous manifestations. Typical findings for Cutis Laxa: 1. Furrowed, wrinkled skin; pulmonary emphysema, vascular anomalies including…
OVERVIEW: What every practitioner needs to know Are you sure your patient has Osteogenesis imperfecta? What are the typical findings for this disease? Osteogenesis imperfecta (OI) is a group of inherited genetic disorders with a wide range of clinical heterogeneity. Bone fragility is the cardinal feature of osteogenesis imperfecta Dentinogenesis imperfecta, hearing loss (may appear…
OVERVIEW: What every practitioner needs to know Are you sure your patient has Ehlers-Danlos syndrome? What are the typical findings for this disease? Ehlers-Danlos syndrome is a group of inherited disorders of connective tissue that can affect joints, skin, blood vessels, muscles, ligaments, and visceral organs. Classical EDS: Joint hypermobility, hyperextensible skin, poor wound healing…
OVERVIEW: What every practitioner needs to know Are you sure your patient has Marfan syndrome? What are the typical findings for this disease? The diagnosis of Marfan syndrome is made according to guidelines established by the 2010 Revised Ghent Nosology. The most important features of Marfan syndrome (the cardinal features) are aortic root dilation or…
OVERVIEW: What every practitioner needs to know Are you sure your patient has Loeys-Dietz syndrome? What are the typical findings for this disease? The most common manifestations of Loeys-Dietz syndrome (LDS) are vascular (including arterial aneurysms in the cerebral circulation, thoracic and abdominal aorta, and dissections) and skeletal (including joint laxity, pectus deformity, scoliosis, arachnodactyly,…
