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Case Reports
. 1993;4(1):51-8.

The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype

S Stengel-Rutkowski  1 , C Apacik, K Kreyenberg, M Jakobeit, B Schmalenberger, R Fahsold
Affiliations
  • PMID: 8471222
Case Reports

The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype

S Stengel-Rutkowski et al. Genet Couns. 1993.

Abstract

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.

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