Nicolaides-Baraitser syndrome in the assessment of an interdisciplinary team

Agata Michalska; Janusz Wendorff; Mariola Uranowska; Michał Linowski; Aleksandra Baran; Agnieszka Szawracka

doi:10.5114/ms.2013.36890

eISSN: 2300-6722
ISSN: 1899-1874

Medical Studies/Studia Medyczne

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2/2013
vol. 29

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abstract:

Case report

Nicolaides-Baraitser syndrome in the assessment of an interdisciplinary team

Agata Michalska

,

Janusz Wendorff

,

Mariola Uranowska

,

Michał Linowski

,

Aleksandra Baran

,

Agnieszka Szawracka

Studia Medyczne 2013; 29 (2): 180–184

DOI: https://doi.org/10.5114/ms.2013.36890

Online publish date: 2013/08/05

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Nicolaides-Baraitser syndrome (NBS) is a rare entity (26 cases in the world, one in Poland) of an unknown aetiology. It is characterised by a profound intellectual disability, limited or no active speech and the presence of epilepsy. From a phenotype perspective, NBS manifests itself in short height, thinning hair, a characteristic shape of the face, brachydactyly, enlarged interphalangeal joints of fingers and wide distal phalanges. The authors present a case of a patient with NBS who is presently 25 years old, assessing her current state of health along with all spheres of development.

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Nicolaides-Baraitser syndrome in the assessment of an interdisciplinary team

Agata Michalska , Janusz Wendorff , Mariola Uranowska , Michał Linowski , Aleksandra Baran , Agnieszka Szawracka

Nicolaides-Baraitser syndrome, clinical symptoms, therapy

Agata Michalska

,

Janusz Wendorff

,

Mariola Uranowska

,

Michał Linowski

,

Aleksandra Baran

,

Agnieszka Szawracka