Paper

A Case of Thanatophoric Dysplasia: The Early Prenatal 2D and 3D Sonographic Findings and Molecular Confirmation of Diagnosis
H.S. Wong^a, A. Kidd^b, J. Zuccollo^a, J. Tuohy^c, L. Strand^c, J. Tait^c, K.C. Pringle<sup>a

a</sup>Department of Obstetrics and Gynaecology, Wellington School of Medicine and Health Sciences, University of Otago,
^bCentral and Southern Regional Genetics Service, and
^cWomen's Health Service, Capital and Coast District Health Board, Wellington, New Zealand

Address of Corresponding Author

Fetal Diagn Ther 2008;24:71-73 (DOI: 10.1159/000132411)

  Key Words

• Thanatophoric dysplasia
• Skeletal dysplasia
• Nuchal translucency
• FGFR 3 gene

  Abstract

Objective: To present the early 2D and 3D ultrasound findings and the molecular confirmation in a case of thanatophoric dysplasia. Methods: On ultrasound examination, there was frontal bossing, increased nuchal translucency and short limbs at 12 weeks' gestation and a small thorax and short and bowed long bones on 3D at 16 weeks. Amniocentesis and DNA analysis confirmed the mutation of FGFR3 gene indicating thanatophoric dysplasia. Results: After medical termination of pregnancy, the postmortem X-ray and pathology examination findings were consistent with the diagnosis. Conclusion: 3D anatomy scan and molecular confirmation may be helpful in early diagnosis and genetic counseling of thanatophoric dysplasia.

Copyright © 2008 S. Karger AG, Basel

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  Author Contacts

Dr. H.S. Wong
Department of Obstetrics and Gynaecology
School of Medicine and Health Sciences, University of Otago, Wellington
PO Box 7343, Wellington South (New Zealand)
Tel. +64 4 385 5999, Fax +64 4 385 5943, E-Mail hongsoo.wong@otago.ac.nz

  Article Information

Received: March 6, 2007
Accepted after revision: May 7, 2007
Published online: May 27, 2008
Number of Print Pages : 3
Number of Figures : 5, Number of Tables : 0, Number of References : 15

  Publication Details

Fetal Diagnosis and Therapy (Clinical Advances and Basic Research)

Vol. 24, No. 1, Year 2008 (Cover Date: July 2008)

Journal Editor: Holzgreve W. (Basel), Evans M.I. (New York, N.Y.), Uzan S. (Paris), Michejda M. (Washington, D.C.), Pringle K.C. (Wellington)
ISSN: 1015-3837 (Print), eISSN: 1421-9964 (Online)

For additional information: http://www.karger.com/FDT

  Drug Dosage / Copyright

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