BibTex RIS Kaynak Göster

Anüler Pankreas ve Diastematomiyeli Saptanan Tip III Klippel Feil Sendromlu Bir Yenidoğan Olgu Sunumu

Yıl 2015, Cilt: 9 Sayı: 1, 44 - 46, 01.04.2015

Öz

Klippel-Feil Sendromu; kısa boyun, baş ve boyunda hareket kısıtlılığı, düşük saç çizgisi klinik triadı ile tanımlanan, kemik ve organ anomalilerinin eşlik ettiği kompleks bir sendromdur. Multiple konjenital anomaliler bu sendromla birlikte görülebilir. Duodenal obstruksiyon ile başvuran klippel-feil sendromu tanımlanan bir yenidoğanda, bilindiği kadarıyla bu sendrom ile ilk kez birlikteliği tanımlanmış anüler pankreas saptanan bir olgu sunulmuştur.

Kaynakça

  • Kaplan KM, Spivak JM, Bendo JA. Embryology of the spine and associated congenital abnormalities. Spine J 2005;5:564-76.
  • Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: Clinical features and current understanding of etiology. Clin Orthop Relat Res 2004;424:183-90.
  • Mahirogulları M, Ozkan H, Yıldırım N, Cilli F, Gudemez E. Klippel- Feil syndrome and associated congenital abnormalities: Evaluation of 23 cases. Acta Orthop Traumatol Turc 2006;40:234-9.
  • Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine 1997;22:396-401.
  • Etienne D, John A, Menias CO, Ward R, Tubbs RS, Loukas M. Annular pancreas: A review of its molecular embryology, genetic basis and clinical considerations. Ann Anat 2012;194:422-8.
  • Pansini M, Magerkurth O, Haecker FM, Sesia SB. Annular pancreas associated with duodenal obstruction. BMJ Case Rep 2012;17:2012
  • Herman TE, Siegel MJ, Vachharajani A. Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging. J Perinatol 2013;33:245-7.
  • Ulmer JL, Elster AD, Ginsberg LE, Williams DW. Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr 1993;17:215-24.
  • McGaughran J. Klippel-Feil anomaly and neural tube defects. Am J Med Genet A 2004;127:327-8.
  • Andronikou S, Fieggeru AG. Klippel-Feil syndrome with cervical diastematomyelia in an 8-year-old boy. Pediatr Radiol 2001;31:636.
  • Palmers M, Peene P, Massa G. Cervicothoracic diastematomyelia with Klippel-Feil syndrome. Rofo 2003;175:1579-81.
  • Chacón-Camacho O, Camarillo-Blancarte L, Pelaez-González H, Mendiola J, Zenteno JC. Klippel-Feil syndrome associated with situs inversus: Description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes. Eur J Med Genet 2013;55: 414-7.

A Newborn with Klippel-Feil Syndrome in Association of Annular A Newborn with Klippel-Feil Syndrome in Association of Annular

Yıl 2015, Cilt: 9 Sayı: 1, 44 - 46, 01.04.2015

Öz

Klippel–Feil syndrome (KFS) is a complex syndrome associated with osseous and visceral anomalies that include the classical clinical triad of short neck, limitation of head and neck movements and low posterior hairline. Multiple congenital anomalies have been associated with this disease. We reported the fi rst case of KFS presented with the symptoms of duodenal obstruction and annular pancreas detected intraoperatively

Kaynakça

  • Kaplan KM, Spivak JM, Bendo JA. Embryology of the spine and associated congenital abnormalities. Spine J 2005;5:564-76.
  • Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: Clinical features and current understanding of etiology. Clin Orthop Relat Res 2004;424:183-90.
  • Mahirogulları M, Ozkan H, Yıldırım N, Cilli F, Gudemez E. Klippel- Feil syndrome and associated congenital abnormalities: Evaluation of 23 cases. Acta Orthop Traumatol Turc 2006;40:234-9.
  • Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine 1997;22:396-401.
  • Etienne D, John A, Menias CO, Ward R, Tubbs RS, Loukas M. Annular pancreas: A review of its molecular embryology, genetic basis and clinical considerations. Ann Anat 2012;194:422-8.
  • Pansini M, Magerkurth O, Haecker FM, Sesia SB. Annular pancreas associated with duodenal obstruction. BMJ Case Rep 2012;17:2012
  • Herman TE, Siegel MJ, Vachharajani A. Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging. J Perinatol 2013;33:245-7.
  • Ulmer JL, Elster AD, Ginsberg LE, Williams DW. Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr 1993;17:215-24.
  • McGaughran J. Klippel-Feil anomaly and neural tube defects. Am J Med Genet A 2004;127:327-8.
  • Andronikou S, Fieggeru AG. Klippel-Feil syndrome with cervical diastematomyelia in an 8-year-old boy. Pediatr Radiol 2001;31:636.
  • Palmers M, Peene P, Massa G. Cervicothoracic diastematomyelia with Klippel-Feil syndrome. Rofo 2003;175:1579-81.
  • Chacón-Camacho O, Camarillo-Blancarte L, Pelaez-González H, Mendiola J, Zenteno JC. Klippel-Feil syndrome associated with situs inversus: Description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes. Eur J Med Genet 2013;55: 414-7.
Toplam 12 adet kaynakça vardır.

Ayrıntılar

Diğer ID JA72RM59MS
Bölüm Research Article
Yazarlar

Alkim Öden Akman Bu kişi benim

Ali Can Demirel Bu kişi benim

Atilla Şenaylı Bu kişi benim

Sevim Ünal Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2015
Gönderilme Tarihi 1 Nisan 2015
Yayımlandığı Sayı Yıl 2015 Cilt: 9 Sayı: 1

Kaynak Göster

Vancouver Akman AÖ, Demirel AC, Şenaylı A, Ünal S. A Newborn with Klippel-Feil Syndrome in Association of Annular A Newborn with Klippel-Feil Syndrome in Association of Annular. Türkiye Çocuk Hast Derg. 2015;9(1):44-6.

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