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Pediatric Radiology
Published in: Pediatric Radiology 12/2008

01-12-2008 | Case Report

Fetal MR imaging of atelosteogenesis type II (AO-II)

Authors: Elka Miller, Susan Blaser, Stephen Miller, Sarah Keating, Megan Thompson, Sheila Unger, Ants Toi, Howard Berger, Karen Chong

Published in: Pediatric Radiology | Issue 12/2008

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Abstract

The diastrophic dysplasia family of osteochondrodysplasias comprises a spectrum of skeletal diseases characterized by abnormal growth and remodelling of cartilage and bone. They are caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene. Different defects in this gene product give rise to the variety of phenotypes based on the level of residual transport capacity. We reported a case of a fetus with this spectrum, evaluated and diagnosed with fetal MRI.
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Macias-Gomez NM, Megarbane A, Leal-Ugarte E et al (2004) Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. Am J Med Genet A 129:190–192CrossRef
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Wax JR, Carpenter M, Smith W et al (2003) Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. J Ultrasound Med 22:805–808PubMed
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Severi FM, Bocchi C, Sanseverino F et al (2003) Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. J Matern Fetal Neonatal Med 13:282–284PubMedCrossRef
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Metadata
Title
Fetal MR imaging of atelosteogenesis type II (AO-II)
Authors
Elka Miller
Susan Blaser
Stephen Miller
Sarah Keating
Megan Thompson
Sheila Unger
Ants Toi
Howard Berger
Karen Chong
Publication date
01-12-2008
Publisher
Springer-Verlag
Published in
Pediatric Radiology / Issue 12/2008
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-008-0974-y

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