@Article{Michalska2013,
journal="Medical Studies/Studia Medyczne",
issn="1899-1874",
volume="29",
number="2",
year="2013",
title="Nicolaides-Baraitser syndrome in the assessment of an interdisciplinary team",
abstract="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.",
author="Michalska, Agata
and Wendorff, Janusz
and Uranowska, Mariola
and Linowski, Michał
and Baran, Aleksandra
and Szawracka, Agnieszka",
pages="180--184",
doi="10.5114/ms.2013.36890",
url="http://dx.doi.org/10.5114/ms.2013.36890"
}