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Case Reports
. 2002 Apr;56(4):342-6.

[Crouzon's syndrome with acanthosis nigricans]

[Article in Spanish]
P Lapunzina  1 , M C Fernández, J M Varela Junquera, C Arberas, A M Tello, R Gracia Bouthelier
Affiliations
  • PMID: 11927079
Case Reports

[Crouzon's syndrome with acanthosis nigricans]

[Article in Spanish]
P Lapunzina et al. An Esp Pediatr. 2002 Apr.

Abstract

Crouzon's syndrome is a complex craniosynostosis disorder due to mutations in fibroblast growth factor receptor (FGFR) type 2. We report a female patient with Crouzon's syndrome associated with acanthosis nigricans. The molecular abnormality in this patient is a point mutation (Ala391Glu) in the transmembrane domain of another FGFR (type 3), which is very close to the mutation (Gly380Arg) most frequently observed in achondroplasia. Acanthosis nigricans is an emerging disorder. Its clinical features and molecular findings differ from those of isolated Crouzon's syndrome. These data are very useful when molecular tests are required for prenatal diagnosis.

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