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Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review

Authors Alrukban H, Chitayat D

Received 6 September 2017

Accepted for publication 16 November 2017

Published 20 April 2018 Volume 2018:11 Pages 31—44


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer

Hadeel Alrukban,1 David Chitayat1,2

1Department of Pediatrics, Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; 2Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, University of Toronto, Toronto, ON, Canada

Abstract: Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. Etiologically, the condition is heterogeneous, and the causes include fetal conditions such as chromosome abnormalities, peroxisomal disorders, lysosomal storage disorders, cholesterol synthesis defects and abnormal vitamin K metabolism, as well as maternal diseases such as severe malabsorption and exposure to teratogens. An association between CDP and maternal autoimmune disease was first observed and reported by Curry et al and Costa et al in 1993 and expanded by Chitayat et al in 2010. This review lists the clinical characteristics and radiologic findings of all cases reported to date in English and discuss the possible etiology of this interesting fetal finding.

Keywords: stippled epiphyses, peroxisomal disorders, vitamin K, chromosome abnormalities, intrauterine growth restriction epiphysis, growth plate

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