Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.
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ABSTRACT:
SUBMITTER: Junior HM
PROVIDER: S-EPMC4320421 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
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Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.
Júnior Hercílio-Martelli HM de Aquino Sibele-Nascimento SN Machado Renato-Assis RA Leão Letícia-Lima LL Coletta Ricardo-Della RD Burle-Aguiar Marcos-José MJ
Medicina oral, patologia oral y cirugia bucal 20150101 1
Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits, broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278 ...[more]
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