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Tamraz, J., Rethoré, M.O., Lejeune, J., Outin, C., Goepel, R., Stievenart, J.L., Iba-Zizen, M.T., Cabanis, E.A. and ARSEP (Association pour la recherche sur la sclérose en plaques, Paris) (1993). Morphométrie encéphalique en IRM dans la maladie du Cri du Chat. A propos de sept patients, avec revue de la littérature. Annales de Génétique, 36, 75-87.

has been cited by the following article:

• TITLE: A longitudinal study in atypical Cri-du chat profile: A single case report

  AUTHORS: Maria Rosa Pizzamiglio, Cristino Volpe, Laura Piccardi

  KEYWORDS: Cat Cry Syndrome; 5p-Syndrome; Narrative Discourse; Longitudinal Study; Mental Delay

  JOURNAL NAME: Case Reports in Clinical Medicine, Vol.2 No.2, May 9, 2013

  ABSTRACT: Background: Cri-du-Chat Syndrome (CdCS) is a rare genetic disorder characterized by a severe mental delay, minimal verbal abilities and severe learning difficulties. Methods: Here, we report two neuropsychological assessments of an Italian girl (FS) with CdCS who was affected by a moderate mental delay. The first assessment was made at 2.3 years and second at 6.5 years. Results: Her cognitive profile was characterized by a discrepancy between social-communicative and visual-motor skills. Specifically, her linguistic skills were better than her ability to copy a drawing or play with a set of building blocks. FS showed good lexical competence in both comprehension and production. Differently, her grammatical skills (i.e. comprehension and production) were somewhat defective. Conclusion: The FS’s case, due to her moderate mental delay and her preserved linguistic skills, allowed investigating some aspects of this syndrome never explored before.