Literature DB >> 8413337

[Cardiac symptoms in 2 patients with Seckel syndrome].

U Rappen1, A I von Brenndorff.   

Abstract

Seckel's Syndrome is a rare (< 1:10,000) malformation, presumably inherited as an autosomal-recessive trait. It is characterized by failure to thrive, mental retardation, bird-like malformation of the face and further abnormalities. Cardiac anomalies have not been described so far. We report two patients with cardiac malformations, a complex defect and a patient ductus arteriosus.

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Year:  1993        PMID: 8413337

Source DB:  PubMed          Journal:  Monatsschr Kinderheilkd        ISSN: 0026-9298            Impact factor:   0.323


  7 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.  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

4.  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

5.  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

6.  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

7.  Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth.

Authors:  Suman Arora; Babita Ghai; Vidya Rattan
Journal:  J Anaesthesiol Clin Pharmacol       Date:  2012-07
  7 in total

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