Iloprost is a Useful Therapy for Adams-Oliver Syndrome with Eisenmenger Syndrome
Yıl 2017,
Cilt: 20 Sayı: 3, 256 - 258, 03.12.2017
Erkan Baysal
,
Bernas Altıntaş
Barış Yaylak
Rojhat Altındağ
Önder Bilge
Utkan Sevük
Öz
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.
Kaynakça
- 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.
Eisenmenger Sendromunun Eşlik Ettiği Adams-Oliver Sendromlu Hastalar İçin İloprost Tedavisi
Yıl 2017,
Cilt: 20 Sayı: 3, 256 - 258, 03.12.2017
Erkan Baysal
,
Bernas Altıntaş
Barış Yaylak
Rojhat Altındağ
Önder Bilge
Utkan Sevük
Öz
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.
Kaynakça
- 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.