Literature DB >> 4000756

Cerebro-costo-mandibular syndrome with consanguinity.

E A Clarke, V D Nguyen.   

Abstract

The cerebro-costo-mandibular syndrome is a rare disorder characterized by unique posterior rib defects, micrognathia, and mental deficiency. The mode of transmission is undetermined. This report describes the first case with documented parental consanguinity as well as hitherto undescribed CT and skeletal findings.

Entities:  

Mesh:

Year:  1985        PMID: 4000756     DOI: 10.1007/bf02388772

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  6 in total

1.  Cerebro-costo-mandibular syndrome. A new familial developmental disorder.

Authors:  B McNicholl; B Egan-Mitchell; J P Murray; J F Doyle; J D Kennedy; L Crome
Journal:  Arch Dis Child       Date:  1970-06       Impact factor: 3.791

2.  Cerebro-costo-mandibular syndrome with autosomal dominant inheritance.

Authors:  J G Leroy; E A Devos; L J Vanden Bulcke; N S Robbe
Journal:  J Pediatr       Date:  1981-09       Impact factor: 4.406

3.  Cerebro-costo-mandibular syndrome. A case report and review of the literature.

Authors:  K Tachibana; Y Yamamoto; E Osaki; Y Kuroki
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development.

Authors:  D W Smith; K Theiler; G Schachenmann
Journal:  J Pediatr       Date:  1966-11       Impact factor: 4.406

5.  Cerebro-costo-mandibular syndrome.

Authors:  F N Silverman; A M Strefling; D K Stevenson; J Lazarus
Journal:  J Pediatr       Date:  1980-09       Impact factor: 4.406

6.  [Cerebro-costo-mandibular syndrome. Three new cases (author's transl)].

Authors:  C Fauré; D Valleur; J L Vital
Journal:  Nouv Presse Med       Date:  1978-02-11
  6 in total
  1 in total

1.  Cerebro-costo-mandibular syndrome with stippled epiphysis and cystic fibrosis.

Authors:  E M Burton; A E Oestreich
Journal:  Pediatr Radiol       Date:  1988
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.