Literature DB >> 18165831

Campomelic dysplasia: case report and review.

M Gimovsky1, E Rosa, T Tolbert, G Guzman, M Nazir, K Koscica.   

Abstract

Initial ultrasound of a fetus in the third trimester demonstrated shortened and bent fetal extremities with a narrow and misshapen thorax. These findings were suggestive of a fetus affected with a possible lethal skeletal dysplasia. Decisions regarding antepartum, intrapartum and neonatal care were made in this context. A newborn with campomelic dysplasia was delivered and suffered a rapid downhill course.

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Year:  2008        PMID: 18165831     DOI: 10.1038/sj.jp.7211875

Source DB:  PubMed          Journal:  J Perinatol        ISSN: 0743-8346            Impact factor:   2.521


  3 in total

Review 1.  Genetics of Short Stature.

Authors:  Youn Hee Jee; Anenisia C Andrade; Jeffrey Baron; Ola Nilsson
Journal:  Endocrinol Metab Clin North Am       Date:  2017-02-23       Impact factor: 4.741

2.  Campomelic dysplasia and malignant hyperthermia.

Authors:  Andreia Barros; Filomena Teixeira; Maria Carmo Camacho; Cristina Alves
Journal:  BMJ Case Rep       Date:  2011-06-09

3.  Acampomelic form of campomelic dysplasia with SOX9 missense mutation.

Authors:  Hariharan Gopakumar; Andrea Superti-Furga; Sheila Unger; Gerd Scherer; P K Rajiv; Sheela Nampoothiri
Journal:  Indian J Pediatr       Date:  2013-04-07       Impact factor: 1.967

  3 in total

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