A fetal cystic neck mass associated with maternal tuberous sclerosis. Case report and literature review |
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| Authors: | A. C. C. van Oppen E. J. Breslau-Siderius Ph. Stoutenbeek A. J. Pull Ter Gunne J. M. W. M. Merkus |
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| Affiliation: | 1. Clinical Genetics Centre, Utrecht, The Netherlands;2. Department of Obstetrics, Utrecht University Hospital, The Netherlands;3. Department of Paediatric Surgery, University Hospital for Children and Youth, Wilhelmina's Children Hospital, Utrecht, The Netherlands;4. Maria Hospital, Department of Obstetrics and Gynaecology, Tilburg, The Netherlands |
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| Abstract: | Tuberous sclerosis is a single gene autosomal-dominant disorder, characterized by multiple hamartoma formation. It shows a wide variability of expression. Prenatal diagnosis by means of a DNA or biochemical marker is not yet possible. Ultrasound offers the only way to detect possible antenatal hamartoma formation, which is most commonly found in the central nervous system, the renal system, and the heart. We report a case of fetal involvement that appears unique because of the unusual location of a tumour in the neck of the fetus. |
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| Keywords: | Tuberous sclerosis Prenatal diagnosis Fetal neck mass |
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