Literature DB >> 19372093

Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements.

Rajoo Thapa1, Kabita Mukherjee.   

Abstract

Seckel syndrome is a rare genetic disorder of recessive inheritance characterized by prenatal-onset growth retardation, abnormally small head, varying degrees of mental retardation and an unusual ''beak-like'' protrusion of the nose. Additionally, it is associated with multiple organ system anomalies, including that of the central nervous system. An 8-year-old male child with typical features of Seckel syndrome and asymptomatic cerebellar tonsillar herniation diagnosed by magnetic resonance imaging associated with congenital mirror movements of the upper extremities is described. The child, additionally, had agenesis of the corpus callosum. Previously reported central nervous system anomalies associated with congenital mirror movements include corpus callosal agenesis and cranio-vertebral anomalies, both of which were present in this child. To the best of our knowledge, this is the first report of congenital mirror movements occurring in association with Seckel syndrome.

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Year:  2009        PMID: 19372093     DOI: 10.1177/0883073809332694

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  3 in total

1.  Cerebellopontine angle arachnoid cyst associated with mirror movements.

Authors:  Esra Gurkas; Buket Yucel Altan; Kıvılcım Gücüyener; Ebru Kolsal
Journal:  J Pediatr Neurosci       Date:  2015 Oct-Dec

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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