Literature DB >> 2716236

[Seckel dwarfism based on a personal case].

H Howanietz1, H Frisch, I Jedlicka-Köhler, H Steger.   

Abstract

Report on a girl with Seckel-syndrome (bird-headed dwarfism). In addition to the known symptomatology she had a congenital heart failure (ASD II, VSD, PDA). Endocrine evaluation revealed decreased growth hormone stimulation. In the CT-scan of the skull enlarged ventricles were demonstrated.

Entities:  

Mesh：

Year:  1989        PMID： 2716236     DOI： 10.1055/s-2007-1025292

Source DB:  PubMed          Journal:  Klin Padiatr        ISSN： 0300-8630            Impact factor:   1.349


  6 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

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.  CPAP promotes timely cilium disassembly to maintain neural progenitor pool.

Authors:  Elke Gabriel; Arpit Wason; Anand Ramani; Li Ming Gooi; Patrick Keller; Andrei Pozniakovsky; Ina Poser; Florian Noack; Narasimha Swamy Telugu; Federico Calegari; Tomo Šarić; Jürgen Hescheler; Anthony A Hyman; Marco Gottardo; Giuliano Callaini; Fowzan Sami Alkuraya; Jay Gopalakrishnan
Journal:  EMBO J       Date:  2016-02-29       Impact factor: 11.598

6.  Seckel-like syndrome or Seckel variants?

Authors:  Mathew Punnachalil Cherian
Journal:  Ann Saudi Med       Date:  2004 Nov-Dec       Impact factor: 1.526
  6 in total

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