title: Testicular cancer in a patient with Primrose syndrome.
abstract: A mentally retarded, adult man was found to have joint contractures, sparse body hair, hearing loss, dysmorphic facial features, large calcified pinnae and a huge torus palatinus. All features are similar to those earlier described in patients with Primrose syndrome. In addition he developed a germ cell tumour of his right testicle at age 27 years. A comparison is provided between the main findings in the four previously reported cases with Primrose syndrome and the current patient. Calcification of the pinnae is an infrequent symptom in the general population, and a torus palatinus of limited size is commonly found but a torus of the size reported here is extremely unusual. Both symptoms are excellent handles for diagnosing this entity. It remains as yet uncertain whether an increased risk to malignancies forms part of this syndrome or is only a consequence of cryptorchidism in this patient.
authors.affiliation: Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, The Netherlands. i.b.mathijssen@amc.uva.nl
authors.forename: Inge B
authors.initials: IB
authors.lastname: Mathijssen
authors.forename: Jos
authors.initials: J
authors.lastname: van Hasselt-van der Velde
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000328:Adult; D004431:Ear, External / Q000002:abnormalities; D019066:Facies; D006197:Hair / Q000002:abnormalities*; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D007596:Joints / Q000002:abnormalities*; D008297:Male; D021362:Palate, Hard / Q000002:abnormalities; D013577:Syndrome; D013736:Testicular Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology