Literature DB >> 24739918

Seckel syndrome: a rare case report.

Rinky Sisodia1, Ravi Kadur Sundar Raj, Vipin Goel.   

Abstract

Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed). In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor psychomotor development. This case report presents an 8-year-old child with SS born to parents, exposed in Bhopal gas disaster.

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Year:  2014        PMID: 24739918     DOI: 10.4103/0970-4388.130983

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


  4 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.  Antenatal diagnosis of Seckel Syndrome: a rare case report.

Authors:  Carmine Vascone; Filippo Di Meglio; Letizia Di Meglio; Luigi Carlo Lo Turco; Salvatore Giovanni Vitale; Pietro Cignini; Ilaria Marilli; Agnese Maria Chiara Rapisarda; Gaetano Valenti; Stefano Cianci
Journal:  J Prenat Med       Date:  2014 Apr-Jun

3.  A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review.

Authors:  Minoo Saeidi; Morteza Shahbandari
Journal:  Int Med Case Rep J       Date:  2020-05-14

4.  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

  4 in total

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