Literature DB >> 17921644

Bird-headed dwarf of Seckel.

B G Harsha Vardhan1, M S Muthu, K Saraswathi, D Koteeswaran.   

Abstract

Seckel syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth resulting in low birth weight. Growth delays continue after birth resulting in short stature (dwarfism). This syndrome is associated with an abnormally small head, varying degrees of mental retardation and unusual "beak like" protrusion of nose. Other facial features may include abnormally large eyes, a narrow face, malformed ears and an unusually small jaw. This syndrome has an autosomal recessive pattern of inheritance. A case of the Seckel syndrome is presented.

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Year:  2007        PMID: 17921644

Source DB:  PubMed          Journal:  J Indian Soc Pedod Prev Dent        ISSN: 0970-4388


  3 in total

Review 1.  Primordial dwarfism: overview of clinical and genetic aspects.

Authors:  Preeti Khetarpal; Satrupa Das; Inusha Panigrahi; Anjana Munshi
Journal:  Mol Genet Genomics       Date:  2015-09-01       Impact factor: 3.291

2.  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

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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