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

  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