The diagnosis of syndromes by use of a dysmorphology database.
A dysmorphology data base can be useful for the clinician in the task of diagnosing multiple malformation syndromes in children. In this article the database POSSUM is described. Four patients with multiple anomalies referred for diagnostic syndrome evaluation are presented. They serve as examples on how POSSUM efficiently can be applied to obtain a short list of appropriate alternative syndromes, subsequently followed by a discussion on the differential diagnosis in each case. A specific, rare syndrome was diagnosed with the aid of POSSUM in all four cases. POSSUM appears to be useful for the diagnosis of dysmorphic syndromes.
Strømme
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Department of Paediatrics, Rikshospitalet, University of Oslo, Norway.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D016208:Databases, Factual; D003936:Diagnosis, Computer-Assisted; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008722:Methods; D012984:Software; D013577:Syndrome