title: A female with Angelman syndrome and unusual limb deformities.
abstract: This report presents the case of a 13-year-old female with Angelman syndrome caused by 15q11-13 microdeletion demonstrating unusual marked limb deformities with generalized osteoporosis, delayed bone age, and brachydactyly type B. The radiographs of her femur, tibia, fibula, ulna, and radius revealed curved deformities in the distal diaphysis-metaphysis areas and generalized osteoporosis. This can be explained by the patient's severe disability, delayed puberty, presumed nutritional and environmental deficits, or rickets. In addition, she had shortening of the distal phalanges of all fingers, the absence of some epiphyses of the distal phalanges, and hypertrophic and curved III metacarpal bones. These clinical findings could not be explained by classical rickets or osteoporosis, but can be classified as brachydactyly type B. To our knowledge, such marked limb deformities and brachydactyly have not previously been described in patients with Angelman syndrome.
authors.affiliation: Department of Pediatrics, University of Tartu, Tartu, Estonia.
authors.forename: Eve
authors.initials: E
authors.lastname: Oiglane-Shlik
authors.forename: Reet
authors.initials: R
authors.lastname: Rein
authors.forename: Vallo
authors.initials: V
authors.lastname: Tillmann
authors.forename: Tiina
authors.initials: T
authors.lastname: Talvik
authors.forename: Katrin
authors.initials: K
authors.lastname: Ounap
mesh_terms: D000293:Adolescent; D017204:Angelman Syndrome / Q000150:complications* / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging*; D011859:Radiography