The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype.
Fragile-X and Sotos phenotypes may be difficult to distinguish. This is illustrated with a case report. Computer assisted phenotype analyses (MDDB), using the complete trait list of this patient, suggested the fragile-X diagnosis, which later was confirmed by molecular techniques. The results of corresponding phenotype analyses are summarized for 17 children with proven fragile-X, and 10 children with suggested Sotos syndrome.
Stengel-Rutkowski
S
S
Institute für Soziale Pädiatrie und Jugendmedizin der Universität Abteilung Genetik, München.
Apacik
C
C
Kreyenberg
K
K
Jakobeit
M
M
Schmalenberger
B
B
Fahsold
R
R
D002648:Child; D016206:Databases, Bibliographic; D003936:Diagnosis, Computer-Assisted; D003937:Diagnosis, Differential; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype