Literature DB >> 2051684

[Seckel's syndrome associated with atrial septal defect: a case report and review of the literature in Japan].

S Fukuda1, Y Morishita, M Hashiguchi, A Taira.   

Abstract

Nine-year-old girl who had Seckel's syndrome (bird-headed dwarfism), one of low birth weight dwarfisms, was successfully operated upon for the associated atrial septal defect. To our knowledge, 17 cases with this syndrome have been reported in Japan. Only three cases including our patient had congenital heart disease.

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Mesh：

Year:  1991        PMID： 2051684

Source DB:  PubMed          Journal:  Kyobu Geka        ISSN： 0021-5252


  3 in total

1.  Seckel syndrome presenting with complete heart block.

Authors:  Mostafa Abohelwa; Mohamed Elmassry; Marina Iskandir; Brandon Rogers; Deephak Swaminath
Journal:  Proc (Bayl Univ Med Cent)       Date:  2021-01-28

2.  Cochlear Implantation in Extraordinary Cases.

Authors:  Fatih Çelenk; Raşit Cevizci; Şenay Altınyay; Yıldırım Ahmet Bayazıt
Journal:  Balkan Med J       Date:  2015-04-01       Impact factor: 2.021

3.  Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.

Authors:  Rebecca E McIntyre; Pavithra Lakshminarasimhan Chavali; Ozama Ismail; Damian M Carragher; Gabriela Sanchez-Andrade; Josep V Forment; Beiyuan Fu; Martin Del Castillo Velasco-Herrera; Andrew Edwards; Louise van der Weyden; Fengtang Yang; Ramiro Ramirez-Solis; Jeanne Estabel; Ferdia A Gallagher; Darren W Logan; Mark J Arends; Stephen H Tsang; Vinit B Mahajan; Cheryl L Scudamore; Jacqueline K White; Stephen P Jackson; Fanni Gergely; David J Adams
Journal:  PLoS Genet       Date:  2012-11-15       Impact factor: 5.917
  3 in total

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