Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6 - 24/08/11
Abstract |
Objective |
To describe clinical and behavioral features of 10 men from 2 families with Borjeson-Forssman-Lehmann syndrome (BFLS) and missense mutations in the PHF6 zinc-finger transcription factor gene.
Study design |
BFLS behavioral features were compared with other age-matched men with other syndromes and similar intellectual functioning through the use of standardized questionnaires: the Child Behavior Checklist, the Vineland Adaptive Behavior Scales, and the Reiss Personality Profile. Participants included 10 with BFLS, 10 with Prader-Willi syndrome, and 23 with Klinefelter syndrome variants (13 with 48,XXYY, 4 with 48,XXXY, and 6 with 49,XXXXY).
Results |
Contrary to initial reports, our men with BFLS had no microcephaly, seizures, or short stature. They manifested deep-set eyes with large ears, coarse facial features, small external genitalia, gynecomastia, and obesity. Family A had mild to moderate mental retardation, whereas family B was more severely affected. On Vineland Adaptive Behavior Scales, men with BFLS had higher daily living and social skills than communicative skills. Men with BFLS also had lower internalizing and externalizing symptoms and appeared more social and helpful than men with Prader-Willi syndrome or Klinefelter syndrome variant.
Conclusions |
Men with BFLS from 2 families with mutations in the PHF6 gene manifested distinctive clinical features and a low risk for maladaptive behaviors.
Le texte complet de cet article est disponible en PDF.Mots-clés : BFLS, CBCL, KS, PWS
Plan
Supported by SHARE's Child Disability Center, UCLA Intercampus NIH/NIGMS Medical Genetics Training Program grant GM08243 and NIH/NICHD grant HD-22657 from the US Department of Health and Human Services (JMG), NIH/NICHD grant HD-26202-12 (CES), and a grant from the South Carolina Department of Disabilities and Special Needs (CS). |
Vol 145 - N° 6
P. 819-825 - décembre 2004 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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