Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Filters applied. Clear all
Review
. 2003 Dec;15(6):614-20.
doi: 10.1097/00008480-200312000-00012.

Controversies Surrounding Jarcho-Levin Syndrome

Affiliations
Review

Controversies Surrounding Jarcho-Levin Syndrome

Alberto S Cornier et al. Curr Opin Pediatr. .

Abstract

Purpose of the review: Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and vertebral anomalies. This admixture of phenotypes under Jarcho-Levin syndrome has allowed some confusion in terms of phenotype, prognosis, and mortality. In the past 2 years, few papers have provided more insight into the clinical diagnosis, prognosis, and management of patient with these phenotypes.

Recent findings: Recently molecular, clinical, and radiologic data have allowed further characterization of these phenotypes. Based on these findings, we have divided these phenotypes into spondylothoracic dysplasia and spondylocostal dysostosis.

Summary: A better understanding of the distinct phenotypes under Jarcho-Levin syndrome will help clinicians to understand the pathological factors of the disease, establish mode of inheritance, provide adequate genetic counseling, prognosis, molecular diagnosis, and clinical management recommendations.

Similar articles

See all similar articles

Cited by 5 articles

LinkOut - more resources

Feedback