Olgu Sunumu
Yıl 2018,
, 312 - 314, 30.09.2018
Öz
Özet
Seckel sendromu (SS) nadir,
heterojen bir primordiyal cücelik türüdür. Zeka geriliği ve nörolojik
belirtilerin varlığı bu sendromun kendine has özelliklerinden biridir. Biz
burada Seckel sendromlu bir çocuk hastada kraniyal MR bulgularını sunuyoruz.
Abstract
Seckel’s syndrome (SS) is a rare,
heterogeneous form of primordial dwarfism. The presence of mental retardation
and neurologic signs is one of the peculiar features of this syndrome. We
herein present the cranial MR findings in a child patient with Seckel's
syndrome.
Anahtar Kelimeler
Kaynakça
- Reference 1 Shanske A, Caride DG, Menasse-Palmer L, Bogdanow A, Marion RW. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet. 1997; 70: 155–8.
- Reference 2 Kutlu R, Alkan A, Kutlu O, Yakinci C. Seckel syndrome with polyarteritis nodosa. Indian Pediatr 2004; 41: 1158-61.
- Reference 3 Arnold SR, Spicer D, Kouseff B et al. Seckel-Like Syndrome in Three Siblings. Pediatr Dev Pathol. 1999; 2: 180–7.
- Reference 4 Howanietz H, Frisch H, Jedlicka-Kobler I, Stegar H. Seckel Dwarfism based on a Personal Observation. Klin Pediatr. 1989; 201: 139–41.
- Reference 5 Cherian MP. Seckel-like syndrome or Seckel variants? Ann Saudi Med 2004; 24: 469–72.
- Reference 6 Krishna AG, Scrimgeour EM, Zawawi TH. Seckel Syndrome in a Yemeni Family in Saudi Arabia. Am J Med Genet 1994; 51: 224–7.
- Reference 7 Sugio Y, Tsukahara M, Kajii T. Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. Jpn J Hum Gene Genet 1993; 38: 209–17.
- Reference 8 D'Angelo VA, Ceddia AM, Zelante L, Florio FP. Multiple intracranial aneurysms in a patient with Seckel syndrome. Childs Nerv Syst. 1998; 14: 82 -4.
- Reference 9 Can F, Ovalı Yılmaz G, Özkol M, Tarhan S. Seckel Sendromunda Görüntüleme Bulguları. Turkiye Klinikleri J Pediatr 2009;18: 328-31.
Yıl 2018,
, 312 - 314, 30.09.2018
Öz
Kaynakça
- Reference 1 Shanske A, Caride DG, Menasse-Palmer L, Bogdanow A, Marion RW. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet. 1997; 70: 155–8.
- Reference 2 Kutlu R, Alkan A, Kutlu O, Yakinci C. Seckel syndrome with polyarteritis nodosa. Indian Pediatr 2004; 41: 1158-61.
- Reference 3 Arnold SR, Spicer D, Kouseff B et al. Seckel-Like Syndrome in Three Siblings. Pediatr Dev Pathol. 1999; 2: 180–7.
- Reference 4 Howanietz H, Frisch H, Jedlicka-Kobler I, Stegar H. Seckel Dwarfism based on a Personal Observation. Klin Pediatr. 1989; 201: 139–41.
- Reference 5 Cherian MP. Seckel-like syndrome or Seckel variants? Ann Saudi Med 2004; 24: 469–72.
- Reference 6 Krishna AG, Scrimgeour EM, Zawawi TH. Seckel Syndrome in a Yemeni Family in Saudi Arabia. Am J Med Genet 1994; 51: 224–7.
- Reference 7 Sugio Y, Tsukahara M, Kajii T. Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. Jpn J Hum Gene Genet 1993; 38: 209–17.
- Reference 8 D'Angelo VA, Ceddia AM, Zelante L, Florio FP. Multiple intracranial aneurysms in a patient with Seckel syndrome. Childs Nerv Syst. 1998; 14: 82 -4.
- Reference 9 Can F, Ovalı Yılmaz G, Özkol M, Tarhan S. Seckel Sendromunda Görüntüleme Bulguları. Turkiye Klinikleri J Pediatr 2009;18: 328-31.
Toplam 9 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 30 Eylül 2018 |
| Kabul Tarihi | 10 Temmuz 2018 |
| Yayımlandığı Sayı | Yıl 2018 |