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
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.
keywords:

Nicolaides-Baraitser syndrome, clinical symptoms, therapy

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