Adams Oliver sendromlu bir yenidoğan: Bir olgu sunumu ve literatür değerlendirmesi

Cilt: 35 Sayı: 4 30 Aralık 2013
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Adams Oliver sendromlu bir yenidoğan: Bir olgu sunumu ve literatür değerlendirmesi

Abstract

Adams Oliver syndrome was first described by Adams and Oliver in 1945. It is a syndrome characterized by aplasia cutis congenita and terminal transverse limb defects of variable severity. A one-day-old female neonate was admitted to the neonatal intensive care unit with aplasia cutis congenita and limb defects. The diagnosis of Adams Oliver syndrome was based on the typical disease features, together with typical appearances on radiography. In this case report, we present a case diagnosed with Adams Oliver syndrome and we also discuss the clinical findings of patients with Adams Oliver syndrome reported in the literature.

Keywords

Kaynakça

  1. Adams FH, Oliver CP. Hereditary deformities in man: due to arrested development. J Hered 1945; 36: 3-7.
  2. McGoey RR, Lacassie Y. Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant. Am J Med Genet A 2008; 146A: 488-91. Farrell SA, Warda LJ, LaFlair P, Szymonowicz W. Adams-Oliver syndrome: A case with juvenile chronic myelogenous leukemia and chylothorax. Am J Med Genet 1993; 47: 1175-9.
  3. Mempel M, Abeck D, Lange I, Strom K, Caliebe A, Beham A, Kautza M, Worret WI, Neubauer BA, Ring J, Schröder H, Fölster-Holst R. The wide spectrum of clinical expression in Adams Oliver syndrome: a report of two cases. Br J Dermatol 1999; 140: 1157-60.
  4. Küster W, Lenz W, Kääriäinen 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.
  5. 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. Becker R, Kunze J, Horn D, Gasiorek-Wiens A, Entezami M, Rossi R, Guschmann M, Sarioglu N. Autosomal recessive type of Adams-Oliver syndrome: Prenatal diagnosis. Ultrasound Obstet Gynecol 2002; 20: 506-10.
  6. Unay B, Sarici SU, Gül D, Akin R, Gökçay E. Adams-Oliver syndrome: Further evidence for autosomal recessive inheritance. Clin Dysmorphol 2001; 10: 223-5. Whitley CB, Gorlin RJ. Adams-Oliver syndrome revisited. Am J Med Genet 1991; 40: 319-26.
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Ayrıntılar

Birincil Dil

İngilizce

Konular

-

Bölüm

-

Yazarlar

Fatih Bolat

Gülseren Erkoca Göktolga

Nejmiye Akkuş

Şenol Çitli

İlhan Sezgin

Yayımlanma Tarihi

30 Aralık 2013

Gönderilme Tarihi

17 Ekim 2012

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 1970 Cilt: 35 Sayı: 4

Kaynak Göster

AMA
1.Küçük Kurtulgan H, Bolat F, Erkoca Göktolga G, Akkuş N, Çitli Ş, Sezgin İ. Adams Oliver sendromlu bir yenidoğan: Bir olgu sunumu ve literatür değerlendirmesi. CMJ. 2013;35(4):575-579. https://izlik.org/JA83JK74AU