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

Pediatric Radiology
Elka MillerKaren Chong

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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Citations

Mar 14, 2012·Pediatric Radiology·Teresa VictoriaDiego Jaramillo
Aug 12, 2014·Prenatal Diagnosis·K Nicole WeaverRobert J Hopkin
May 10, 2013·São Paulo Medical Journal = Revista Paulista De Medicina·Jonathan Celli HonórioLuciano Marcondes Machado Nardozza
Nov 30, 2019·Pediatric Radiology·Leah A GilliganBeth M Kline-Fath
Jan 7, 2022·American Journal of Medical Genetics. Part a·Vijaya Sree VenkatapuramSiddaramappa Jagdish Patil

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