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J Pediatr Genet 2017; 06(02): 122-125
DOI: 10.1055/s-0036-1597930
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature

Ranjit I. Kylat
1   Division of Neonatal-Perinatal Medicine and Developmental Biology, Department of Pediatrics, University of Arizona, Tucson, Arizona, United States
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Publication History

16 August 2016

30 November 2016

Publication Date:
02 January 2017 (online)

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Abstract

Achondroplasia (ACH) occurs in most cases as de novo mutations of the gene-encoding fibroblast growth factor receptor 3 (FGFR3). Biliary atresia (BA) is a progressive neonatal inflammatory and fibro-obliterative cholangiopathy affecting the extra- and intrahepatic biliary tree to varying degrees, and it results in obstruction to bile flow and cholestatic jaundice in neonates. BA is thought to be a multifactorial disease, genome association studies have shown abnormalities in susceptibility genes, and levels of fibroblast growth factor 21 (FGF21) and fibroblast growth factor 23 (FGF23) have been noted to be increased. These two conditions occurring in the same patient has never been reported before.

Keywords

biliary atresia - achondroplasia - skeletal dysplasia - fibroblast growth factors - fibroblast growth factor 21 - fibroblast growth factor 23 - fibroblast growth factor receptor 3 - glypican 1
 

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