Literature DB >> 15127771

Seckel syndrome associated with atrioventricular canal defect: a case report.

Birsen Ucar, Zübeyir Kilic, Ener Cagri Dinleyici, Ayten Yakut, Nesrin Dogruel.   

Abstract

Seckel syndrome is a rare autosomal recessive disorder and its characteristic features are marked growth and mental retardation, significant microcephaly and a convex nose. We report a boy with this syndrome who also had severe cardiac anomalies. Although his parents were non-consanguineous, it is suggested that he had autosomal recessive inheritance.

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Year:  2004        PMID： 15127771     DOI： 10.1097/00019605-200401000-00017

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  8 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.  Seckel syndrome with severe sinus bradycardia.

Authors:  Chandramohan Ramasamy; Santhosh Satheesh; Raja Selvaraj
Journal:  Indian J Pediatr       Date:  2014-09-04       Impact factor: 1.967

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

4.  Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature.

Authors:  Arzu Kilic; Seray Külcü Çakmak; Timur Tuncali; Ozlem Koz; Esra Ozhamamci; Oztan Yasun; Ferda Artuz
Journal:  Postepy Dermatol Alergol       Date:  2015-12-11       Impact factor: 1.837

5.  Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

Authors:  Lisa C A D'Alessandro; Saeed Al Turki; Ashok Kumar Manickaraj; Dorin Manase; Barbara J M Mulder; Lynn Bergin; Herschel C Rosenberg; Tapas Mondal; Elaine Gordon; Jane Lougheed; John Smythe; Koen Devriendt; Shoumo Bhattacharya; Hugh Watkins; Jamie Bentham; Sarah Bowdin; Matthew E Hurles; Seema Mital
Journal:  Genet Med       Date:  2015-05-21       Impact factor: 8.822

6.  A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review.

Authors:  Minoo Saeidi; Morteza Shahbandari
Journal:  Int Med Case Rep J       Date:  2020-05-14

7.  A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation.

Authors:  Chun-Ting Chen; Heidi Hehnly; Qing Yu; Cecilia Lo; Stephen Doxsey; Debby Farkas; Guoqiang Zheng; Sambra D Redick; Hui-Fang Hung; Rajeev Samtani; Agata Jurczyk; Schahram Akbarian; Carol Wise; Andrew Jackson; Michael Bober; Yin Guo
Journal:  Curr Biol       Date:  2014-09-11       Impact factor: 10.834

8.  Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.

Authors:  Osama Khojah; Saeed Alamoudi; Nouf Aldawsari; Mohammed Babgi; Ahmed Lary
Journal:  Childs Nerv Syst       Date:  2021-08-03       Impact factor: 1.475
  8 in total

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