title: A fetal cystic neck mass associated with maternal tuberous sclerosis. Case report and literature review.
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.
authors.affiliation: Department of Obstetrics, Utrecht University Hospital, The Netherlands.
authors.forename: A C
authors.initials: AC
authors.lastname: van Oppen
authors.forename: E J
authors.initials: EJ
authors.lastname: Breslau-Siderius
authors.forename: P
authors.initials: P
authors.lastname: Stoutenbeek
authors.forename: A J
authors.initials: AJ
authors.lastname: Pull Ter Gunne
authors.forename: J M
authors.initials: JM
authors.lastname: Merkus
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum; D001706:Biopsy; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006258:Head and Neck Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D008202:Lymphangioma / Q000175:diagnosis* / Q000473:pathology; D011247:Pregnancy; D011248:Pregnancy Complications; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging* / Q000235:genetics; D016216:Ultrasonography, Prenatal