Computer assisted diagnosis of malformation syndromes: An evaluation of three databases (LDDB, POSSUM, and SYNDROC)

Abstract

Computer programs which can be used as an aid to diagnose multiple congenital anomaly syndromes have been used for many years, but up to now they have been evaluated very rarely. The diagnostic abilities of three of these systems [LDDB (London Dysmorphology Database), POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations), and SYNDROC] were analyzed. All three programs are based on an algorithm which defines a diagnosis by a set of phenotypic components all having the same weight (descriptive algorithm). A second algorithm is applied by SYNDROC to rank competing diagnoses in order of probability. This pseudo-Bayesian algorithm provides a coefficient of certitude (CC). For a test the clinical findings of 102 patients who had received a firm diagnosis were used. Two search strategies were tried: "novice's strategy" with all findings taken for a search and "expert's strategy" with a selected set of anomalies. Only those diagnoses that were suggested with the 1st rank, defined as the highest degree of agreement, or the highest CC were studied. The greatest resemblance between suggestions of the databases and the clinical diagnosis was obtained with the expert strategy. The highest number of matches were produced by SYNDROC (80 with expert strategy) and the lowest by POSSUM (54 with novice strategy). The overall agreement between the databases is about 40% for the 1st rank. This number reflects that different authors use different pivotal signs for the description of a syndrome. With the pseudo-Bayesian algorithm 59 cases obtained the highest CC value. Great difficulties exist with the subjective estimates for the calculation of these values; the absolute CC values seem to be meaningless. A small number of unusual cases with special combinations of anomalies provide serious problems for correct diagnosis.

A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family

“…We have searched the genetic literature and databases, such as OMIM, POSSUM, and London dysmorphology medical database (LDDB) 63 for patients or families with the same symptoms (microtia, mixed hearing loss, inner ear abnormality and cleft palate) as the current family. We have not been successful in this regard because these four symptoms, if present, are always seen in combination with other abnormalities.…”

Tamoxifen‐inducible Cre‐mediated recombination in adipocytes

“…A similar PDM‐based approach was initially applied in the delineation of NS using 2D face photographs but was transferred to 3D data once they became available [Hammond et al, 2001b]. Many other techniques have been applied in the computer‐based diagnosis of dysmorphic syndromes, often using other phenotypic descriptors in addition to or instead of those of the face [Winter et al, 1988; Evans, 1995; Evans and Winter, 1995; Braaten, 1996; Pelz et al, 1998].…”

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders

“…As in the present review, OMIM could be queried as a dysmorphology database. While other existing genetic databases are of enormous benefit to the biomedical community, the majority, if not all of them, are focused on a particular aspect of genetic medicine – dysmorphology [9], DNA sequences, gene expression patterns, protein analysis, etc. OMIM serves as a common link that brings together all of the existing genetic databases and greatly enhances the stimulation of biologic interest and investigation, not only at the genomic level, but also at the clinical level in many biomedical disciplines.…”