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    Familial erythromelanosis follicularis and chromosomal instability
    (European Acad Dermatology & Venereology, 2001) Tüzün, Y; Wolf, R; Tüzün, B; Özdemir, M; Demirkesen, C; Deviren, A; Kotogyan, A
    We report a 17-year-old male patient with erythromelanosis follicularis faciei et colli (EFFC), oral leucokeratosis and diabetes mellitus without islet cell antibody. His sister also had minimal findings of EFFC and minimal follicular papules on her shoulders and extensor surfaces of the arms. The father had only fine follicular papules, but no erythromelanosis. Skin and mucous membrane lesions of the proband were investigated histopathologically. Interestingly, in peripheral lymphocyte cultures of the family members, chromosomal breakage was not observed spontaneously, but it was seen with nitrogen mustard, although this disease may be of autosomal recessive inheritance. Thus, we suggest that EFFC may be a poly-aetiological disorder (i.e. familial and environmental) and might be considered one of the chromosomal instability syndromes.
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    Wolf-Hirschhom syndrome with posterior intraorbital coloboma cyst: an unusual case
    (Elsevier Science Bv, 2004) Tutunculer, F; Acunas, B; Hicdonmez, T; Deviren, A; Pelitli, V
    Wolf-Hirschhorm syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and cardiac septal defect. We herein present a new case of WHS with bilateral iris colobomata and a left intraorbital large coloboma cyst causing exophthalmos. (C) 2003 Elsevier B.V. All rights reserved.