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Curr Opin Pediatr. 2003 Dec;15(6):614-20.

Controversies surrounding Jarcho-Levin syndrome.

Author information

1
Division of Genetics, Ponce School of Medicine, Ponce, Puerto Rico. scornier@psm.edu

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.

PMID:
14631208
[Indexed for MEDLINE]

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