H S Wong1, A Kidd, J Zuccollo, J Tuohy, L Strand, J Tait, K C Pringle. 1. Department of Obstetrics and Gynaecology, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand. hongsoo.wong@otago.ac.nz
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.
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.
Authors: Adekunle Y Abdulkadir; Kabiru Isyaku; Akintade Dare; Sulaiman G Abdullahi; Sule K Idris; Abdulkadir M Tabari Journal: J Prenat Med Date: 2008-10