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Cutis laxa with growth and developmental delay
(Clinical Pediatrics, 2001) Karakurt, Cemşit; Sipahi, T.; Ceylaner, S.; Şenocak, Filiz; Karademir, Selmin; Becer, M.
Congenital cutis laxa is a rare inherited disorder of connective tissue manifested by loose, hanging skin. Cutis laxa may be inherited (autosomal dominant, autosomal recessive) or acquired. As opposed to the recessive form of cutis laxa, the dominant form has been reported to be free of pulmonary and other internal manifestation.' Skin fibroblast cultures from cutis laxa patients exhibit reduced elastin. The genetic map locus of autosomal dominant form is 7q11.2. Tassabehji et a12 have described patients with autosomal dominant cutis laxa and mutations in elastin gene.
Cutis laxa with growth and developmental delay
(Clinical Pediatrics, 2001) Karakurt, Cemşit; Sipahi, T.; Ceylaner, S.; Şenocak, Filiz; Karademir, Selmin; Becer, M.
Cardiac examination revealed apical midsystolic click and 2/6 systolic murmur. Radiographic examination of the chest and gastrointestinal system and abdominal ultrasonography appeared normal. Echocardiography revealed mitral valve prolapse. A skin biopsy was obtained and processed for light microscopy. It revealed a decrease in the number of the elastic fibers. Chromosomal analysis yielded normal findings.