Literature DB >> 22353298

Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis.

Dilek Sarici1, Mustafa Ali Akin, Ahu Kara, Selim Doganay, Selim Kurtoglu.   

Abstract

Seckel syndrome is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, microcephaly, and "bird-like" face with prominent, beak-like nose and micrognathia. Additional abnormalities were described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. We present the magnetic resonance imaging findings of a neonate with Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. Major brain malformations may be associated with Seckel syndrome. Imaging studies should be performed to determine any central nervous system abnormalities. Considering the basic defect of neuroblast proliferation in Seckel syndrome, neuronal migration disorders should be sought in these patients. Copyright Â
© 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID: 22353298     DOI: 10.1016/j.pediatrneurol.2012.01.002

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  3 in total

1.  Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Authors:  Yavuz Bayram; Ender Karaca; Zeynep Coban Akdemir; Elif Ozdamar Yilmaz; Gulsen Akay Tayfun; Hatip Aydin; Deniz Torun; Sevcan Tug Bozdogan; Alper Gezdirici; Sedat Isikay; Mehmed M Atik; Tomasz Gambin; Tamar Harel; Ayman W El-Hattab; Wu-Lin Charng; Davut Pehlivan; Shalini N Jhangiani; Donna M Muzny; Ali Karaman; Tamer Celik; Ozge Ozalp Yuregir; Timur Yildirim; Ilhan A Bayhan; Eric Boerwinkle; Richard A Gibbs; Nursel Elcioglu; Beyhan Tuysuz; James R Lupski
Journal:  J Clin Invest       Date:  2016-01-11       Impact factor: 14.808

2.  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

3.  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

  3 in total

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