Literature DB >> 1832221

Cockayne's syndrome: literature review and case report.

R A Boraz1.   

Abstract

Cockayne's syndrome is a rare, autosomal recessive disorder characterized clinically by cachectic dwarfism, cutaneous photosensitivity, loss of adipose tissue, mental retardation, skeletal and neurological abnormalities, and pigmentary degeneration of the retina. Dental caries is a common finding. The case of a 4-year-old male with Cockayne's syndrome is presented. A dental rehabilitation involving outpatient surgery is described including the difficulties encountered because of a small oral cavity and restricted mandibular range of motion.

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Year:  1991        PMID: 1832221

Source DB:  PubMed          Journal:  Pediatr Dent        ISSN: 0164-1263            Impact factor:   1.874


  5 in total

1.  Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.

Authors:  Jingsheng Tuo; Baitang Ning; Christine M Bojanowski; Zhong-Ning Lin; Robert J Ross; George F Reed; Defen Shen; Xiaodong Jiao; Min Zhou; Emily Y Chew; Fred F Kadlubar; Chi-Chao Chan
Journal:  Proc Natl Acad Sci U S A       Date:  2006-06-05       Impact factor: 11.205

2.  Effect of ERCC8 tagSNPs and their association with H. pylori infection, smoking, and alcohol consumption on gastric cancer and atrophic gastritis risk.

Authors:  Jing-Jing Jing; Li-Ping Sun; Qian Xu; Yuan Yuan
Journal:  Tumour Biol       Date:  2015-07-01

3.  Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria.

Authors:  Lear E Brace; Sarah C Vose; Dorathy F Vargas; Shuangyun Zhao; Xiu-Ping Wang; James R Mitchell
Journal:  Aging Cell       Date:  2013-09-11       Impact factor: 9.304

4.  Dental Management of a 14-Year-Old with Cockayne Syndrome under General Anesthesia.

Authors:  Divya Gaddam; Mukesh Singh Thakur; Niranjani Krothapalli; Saujanya Kaniti
Journal:  Case Rep Dent       Date:  2014-12-10

5.  A possible cranio-oro-facial phenotype in Cockayne syndrome.

Authors:  Agnès Bloch-Zupan; Morgan Rousseaux; Virginie Laugel; Matthieu Schmittbuhl; Rémy Mathis; Emmanuelle Desforges; Mériam Koob; Ariane Zaloszyc; Hélène Dollfus; Vincent Laugel
Journal:  Orphanet J Rare Dis       Date:  2013-01-14       Impact factor: 4.123

  5 in total

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