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

Adams Oliver Sendromu ilk defa 1945 yılında Adams ve Oliver tarafından tanımlanmıştır. Aplasiakutis konjenitale ve değişik derecede transvers ekstremite defektleri ile karakterize birsendromdur. Bir günlük kız bebek aplazi kutis konjenita ve ekstremite defekti ile yenidoğan yoğunbakım ünitemize yatırıldı. Tanısı klinik özellikleri ve radyolojik bulgular ile konuldu. Bu olgusunumunda biz, Adams Oliver sendromlu bir vaka sunduk ve literatürde bildirilen Adams Oliversendromlu olguların klinik özelliklerini tartıştık.

A neonate with Adams Oliver syndrome: A case report and review of the literature

Adams Oliver syndrome was first described by Adams and Oliver in 1945. It is a syndromecharacterized 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 cutiscongenita and limb defects. The diagnosis of Adams Oliver syndrome was based on the typicaldisease features, together with typical appearances on radiography. In this case report, we present acase diagnosed with Adams Oliver syndrome and we also discuss the clinical findings of patientswith Adams Oliver syndrome reported in the literature.

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  • 17. Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet 2011; 88: 574-85.
  • 18. Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012; 91: 391-5.
  • 19. Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet 2011; 89: 328-33.
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  • Yayın Aralığı: Yılda 4 Sayı
  • Yayıncı: Cumhuriyet Üniversitesi Tıp Fakültesi
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