Testicular cancer in a patient with Primrose syndrome

European Journal of Medical Genetics
Inge B MathijssenR C Hennekam

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.

References

Oct 1, 1992·Journal of the American Academy of Dermatology·S E AlbersN A Fenske
Feb 1, 1988·Community Dentistry and Oral Epidemiology·P A ReichartM Sookasem
Jan 1, 1986·Human Heredity·G BarbujaniJ Pinto-Cisternas
Oct 1, 1995·Australian Dental Journal·Y H Seah
Feb 5, 1998·American Journal of Medical Genetics·M GorskyM Shohat
May 17, 2002·The New England Journal of Medicine·Lynn M BoydenRichard P Lifton
Sep 20, 2002·The New England Journal of Medicine·Randall D LittleMark L Johnson
Jan 21, 2003·Journal of Neurology·Carla BattistiAntonio Federico
May 3, 2003·The Journal of Clinical Endocrinology and Metabolism·Joseph L BelskyWilliam Johns
Mar 1, 1963·American Journal of Physical Anthropology·C J Witkop, L Barros
Feb 16, 2005·American Journal of Medical Genetics. Part a·Johannes Hans M MerksRaoul C M Hennekam

❮ Previous
Next ❯

Citations

Jul 16, 2014·Nature Genetics·Viviana CordedduRaoul C Hennekam
May 14, 2011·American Journal of Medical Genetics. Part a·Daniel Rocha Carvalho, Carlos Eduardo Speck-Martins
Sep 13, 2011·American Journal of Medical Genetics. Part a·Renata PosmykSławomir Wołczyński
Apr 12, 2016·American Journal of Medical Genetics. Part a·Francesca MattioliSheila Unger
Sep 27, 2018·Clinical Dysmorphology·Sigrún GrímsdóttirNuno V Hermann
Jan 15, 2019·American Journal of Medical Genetics. Part a·Ruth CleaverKatrina Tatton-Brown
Dec 11, 2019·American Journal of Medical Genetics. Part a·Keiko Yamamoto-ShimojimaToshiyuki Yamamoto
Apr 9, 2020·Clinical Genetics·Daniela MelisRaoul C Hennekam
Apr 24, 2018·American Journal of Medical Genetics. Part a·Caroline AlbySophie Thomas
Oct 2, 2020·The Journal of Immunology : Official Journal of the American Association of Immunologists·Yanbo SunEdward J Usherwood

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cancer Metabolism

In order for cancer cells to maintain rapid, uncontrolled cell proliferation, they must acquire a source of energy. Cancer cells acquire metabolic energy from their surrounding environment and utilize the host cell nutrients to do so. Here is the latest research on cancer metabolism.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.