Integrating consultation and semi-automatic knowledge acquisition in a prototype-based architecture: Experiences with dysmorphic syndromes

The paper describes an application of cognitive theories from Tversky and Rosch on prototype similarity of dysmorphic syndromes cases. The knowledge-based system supports diagnostic consultation and research in dysmophic syndromes. It has been used routinely since many years. The knowledge base is semi-automatically generated from known cases of an outpatient clinic. Some results of the evaluation process of the system´s achievments are shown. General conclusions based on the experience with this successful system are discussed. Key words: integrating consultation and research, semi-automatic knowledge-acquistion, dysmorphic syndromes, prototype-based architecture, prototype similarity 1

An Attentive Processing Strategy for the Analysis of Facial Features

Facial landmarks such as eye corners, mouth corners or nose edges are important features for many applications in face recognition. The exact detection of these landmarks, however, is not an easy task because of the high individual variability of facial images and therefore, of the tremendous complexity of all the low-level features existing within the image. For instance, a precise and reliable detection of the eye corners has not been successfully solved until now. However, the knowledge of the exact position of these landmarks in the facial image is important for many matching and face processing tasks. For the classification and discrimination of dysmorphic facial signs a precise and reliable detection of a certain set of anatomical facial landmarks is particularly necessary. For this, an attentive processing strategy has been developed which puts the focus of the processing on only those salient image areas which are really needed to solve the several subtasks. The fundamental idea of the approach presented is to concentrate the artificial attention upon only a small fraction of the existing low-level features within a spatially well restricted image area

Praenatale Diagnostik an Chorionzotten Abschlussbericht ueber die Dokumentation der Untersuchungen innerhalb der Gemeinschaftsstudie in der Bundesrepublik Deutschland 1985 - 1991

SIGLEAvailable from TIB Hannover: F95B1008+a / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekBundesministerium fuer Forschung und Technologie (BMFT), Bonn (Germany)DEGerman

Further delineation of the Branchio-Oculo-Facial Syndrome

Contains fulltext : 22077___.PDF (publisher's version ) (Open Access

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

Holoprosencephaly (HPE) is the most common structural anomaly of the human brain and is one of the anomalies seen in patients with deletions and duplications of chromosome 13. On the basis of molecular analysis of a series of patients with hemizygous deletions of the long arm of chromosome 13, we have defined a discrete region in band 13q32 where deletion leads to major developmental anomalies (the 13q32 deletion syndrome). This approximately 1-Mb region lies between markers D135136 and D13S147. Patients in which this region is deleted usually have major congenital malformations, including brain anomalies such as HPE or exencephaly, and digital anomalies such as absent thumbs. We now report that human ZIC2 maps to this critical deletion region and that heterozygous mutations in ZIC2 are associated with HPE. Haploinsufficiency for ZIC2 is likely to cause the brain malformations seen in 13q deletion patient