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DOI 10.4045/tidsskr.13.0894

Медицинская библиотека · Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke · 2014

Man with macrocephaly, learning disability and multiple basal cell carcinomas.

von der Lippe Charlotte, Roscher Ingrid, Nordgarden Hilde, Rustad Cecilie, Larsen Selma Mujezinovic, Mjøen Even, Bratland Åse

Клинический случайСтатьяПеревод в очереди

Аннотация

Gorlin syndrome is a rare genetic condition in which patients may develop medulloblastomas, jaw cysts and basal cell carcinomas and show congenital skeletal malformations. If left undiagnosed, Gorlin syndrome can have a number of negative consequences. Early diagnosis and good follow-up is important for all patients with rare disorders. We wish to make doctors and dentists aware of Gorlin syndrome so that, whenever the syndrome is suspected or a patient has been diagnosed, the patient is referred for assessment, treatment and follow-up by specialists who know the disorder well. Dermatology departments at university hospitals and departments of medical genetics have a key role to play in assessment and follow-up. A national support group for Gorlin syndrome has been established, consisting of a dermatologist, oncologist, geneticist, paediatrician, specialist dentist, ophthalmologist, orthopaedic surgeon, plastic surgeon, oral and maxillofacial surgeon and counsellors. Patients, relatives and health professionals can contact the Centre for Rare Disorders directly for information about Gorlin syndrome, or to be put in touch with members of the group.

Для цитирования: von der Lippe Charlotte, Roscher Ingrid, Nordgarden Hilde, Rustad Cecilie, Larsen Selma Mujezinovic, Mjøen Even, Bratland Åse. Man with macrocephaly, learning disability and multiple basal cell carcinomas.. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 2014. DOI: 10.4045/tidsskr.13.0894.

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