A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.

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.

• Authors: H S Wong, A Kidd, J Zuccollo, J Tuohy, L Strand, J Tait, K C Pringle
• Journal: Fetal diagnosis and therapy (Fetal Diagn Ther) Vol. 24 Issue 1 Pg. 71-3 ( 2008) ISSN: 1421-9964 [Electronic] Switzerland
• PMID: 18504386 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2008 S. Karger AG, Basel.

Chemical References

• FGFR3 protein, human
• Receptor, Fibroblast Growth Factor, Type 3

Topics

• Adult
• Female
• Humans
• Imaging, Three-Dimensional
• Mutation
• Pregnancy
• Receptor, Fibroblast Growth Factor, Type 3 (genetics)
• Thanatophoric Dysplasia (diagnostic imaging, genetics, pathology)
• Ultrasonography, Prenatal (methods)