Erkan BAYSAL, Bernas ALTINTAŞ, Barış YAYLAK, Rojhat ALTINDAĞ, Önder BİLGE, Utkan SEVÜK

Eisenmenger Sendromunun Eşlik Ettiği Adams-Oliver Sendromlu Hastalar İçin İloprost Tedavisi

Adams-Oliver sendromu (AOS) skalp defekti ve uç uzuv anomalisi ile karakterizedir. Birçok rapor bu sendromun otozomal dominant kalıtımını kanıtlamıştır. Birçok olguda kutis marmarotus telenjektazia konjenita eşlik etmektedir. Bu olguda biz AOS’a eşlik eden Eisenmenger sendromu ve kardiyak malformasyon tanımladık.Literatürümüzde bulunan çok nadir bir olgu olduğu için detaylı olgu ve literatür bilgisi hazırlandı.

Anahtar Kelimeler:

Adams-Oliver sendromu, iloprost tedavisi, Eisenmenger sendromu

Iloprost is a Useful Therapy for Adams-Oliver Syndrome with Eisenmenger Syndrome

Adams-Oliver syndrome is characterized by scalp defects with terminal transverse limb anomalies. Most reports on this syndrome demonstrate autosomal dominant pedigrees. Cutis marmorata telangiectasia congenita accompanies the syndrome in many cases. Here, we describe a case of Adams-Oliver syndrome with cardiac malformation and Eisenmenger syndrome. Because this is a rare case, the detailed case and literature data are presented.

Keywords:

Adams-Oliver syndrome, iloprost therapy, Eisenmenger syndrome,

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1. Adams FH, Oliver CP. Hereditary deformities in man due to arrested development. J Hered 1945;36:3-7.
2. Whitley CB, Gorlin RJ. Adams-Oliver syndrome revisited. Am J Med Genet 1991;40:319-26.
3. Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD. Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? Am J Med Genet 1988;9:269-76.
4. Frank RA, Frosch PS. Adams-Oliver syndrome. Dermatology 1993; 187:205-8.
5. Orstavik KH, Stromme P, Spetalen S, Flage T, Westvik P, Vesterhus P, et al. Aplasia cutis congenita associated with limb, eye, and brain anomalies. Am J Med Genet 1995;59:92-5.
6. Dyall-Smith D, Ramsden A, Laurie S. Adams-Oliver syndrome: aplasia cutis congenita, terminal transverse limb defects and cutis marmorata telangiectatica congenita. Australas J Dermatol 1994;35:19-22.
7. Koiffmann CP, Wajntal A, Huyke BJ, Castro RM. Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome McKusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet 1988;29:263-8.
8. Kuster W, Lenz W, Kaariainen H, Majewski F. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet 1988; 31:99-115.
9. Sybert VP. Congenital scalp defects with distal limb anomalies: further suggestion of autosomal recessive inheritance. Am J Med Genet 1989;32: 266-7.
10. Zapata HH, Sletten LJ, Pierpont ME. Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet 1995;47:80-4.
11. Swartz EN, Sanatani S, Sandor GG, Schreiber RA. Vascular abnormalities in Adams-Oliver syndrome. Am J Med Genet 1999;82:49-52.
12. Verdyck P, Blaumeiser B, Holder-Espinasse M, Van Hul W, Wuyts W. Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes. Clin Genet 2006;69:86-92.