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.