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

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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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References

  1. Lamy M, Maroteaux P (1960) Le nanisme diastrophique. Presse Med 68:1977–1980

    PubMed  CAS  Google Scholar 

  2. 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 129:190–192

    Article  Google Scholar 

  3. Ryoppy S, Poussa M, Merikanto J et al (1992) Foot deformities in diastrophic dysplasia. An analysis of 102 patients. J Bone Joint Surg Br 74:441–444

    PubMed  CAS  Google Scholar 

  4. Wax JR, Carpenter M, Smith W et al (2003) Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. J Ultrasound Med 22:805–808

    PubMed  Google Scholar 

  5. Sepulveda W, Sepulveda-Swatson E, Sanchez J (2004) Diastrophic dysplasia: prenatal three-dimensional ultrasound findings. Ultrasound Obstet Gynecol 23:312–314

    Article  PubMed  CAS  Google Scholar 

  6. 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 13:282–284

    Article  PubMed  CAS  Google Scholar 

  7. Nores JA, Rotmensch S, Romero R et al (1992) Atelosteogenesis type II: sonographic and radiological correlation. Prenat Diagn 12:741–753

    Article  PubMed  CAS  Google Scholar 

  8. Aravind L, Koonin EV (2000) The STAS domain – a link between anion transporters and antisigma-factor antagonists. Curr Biol 10:R53–R55

    Article  PubMed  CAS  Google Scholar 

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Acknowledgement

We thank Dr. James Hyland, Director of Connective Tissue Gene Tests Laboratories, Allentown, PA.

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Authors and Affiliations

  1. Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Ave., Toronto, M5G 1X8, Canada

    Elka Miller, Susan Blaser & Stephen Miller

  2. Department of Pathology, Mount Sinai Hospital, Toronto, Canada

    Sarah Keating & Megan Thompson

  3. Institute for Human Genetics and Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

    Sheila Unger

  4. Department of Medical Imaging, Mount Sinai Hospital, Toronto, Canada

    Ants Toi

  5. Department of Obstetrics and Gynecology, St. Michael’s Hospital, Toronto, Canada

    Howard Berger

  6. The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Canada

    Karen Chong

Authors
  1. Elka Miller
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  2. Susan Blaser
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  3. Stephen Miller
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  4. Sarah Keating
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  5. Megan Thompson
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  6. Sheila Unger
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  7. Ants Toi
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  8. Howard Berger
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  9. Karen Chong
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Corresponding author

Correspondence to Elka Miller.

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Miller, E., Blaser, S., Miller, S. et al. Fetal MR imaging of atelosteogenesis type II (AO-II). Pediatr Radiol 38, 1345–1349 (2008). https://doi.org/10.1007/s00247-008-0974-y

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  • DOI: https://doi.org/10.1007/s00247-008-0974-y

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