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[Crouzon's syndrome with acanthosis nigricans].
An Esp Pediatr. 2002 Apr; 56(4):342-6.AE

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.

Authors+Show Affiliations

Laboratorio de Biología Molecular, Hospital Universitario La Paz, Madrid, Spain. plapunzina@hulp.insalud.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

spa

PubMed ID

11927079

Citation

Lapunzina, P, et al. "[Crouzon's Syndrome With Acanthosis Nigricans]." Anales Espanoles De Pediatria, vol. 56, no. 4, 2002, pp. 342-6.
Lapunzina P, Fernández MC, Varela Junquera JM, et al. [Crouzon's syndrome with acanthosis nigricans]. An Esp Pediatr. 2002;56(4):342-6.
Lapunzina, P., Fernández, M. C., Varela Junquera, J. M., Arberas, C., Tello, A. M., & Gracia Bouthelier, R. (2002). [Crouzon's syndrome with acanthosis nigricans]. Anales Espanoles De Pediatria, 56(4), 342-6.
Lapunzina P, et al. [Crouzon's Syndrome With Acanthosis Nigricans]. An Esp Pediatr. 2002;56(4):342-6. PubMed PMID: 11927079.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Crouzon's syndrome with acanthosis nigricans]. AU - Lapunzina,P, AU - Fernández,M C, AU - Varela Junquera,J M, AU - Arberas,C, AU - Tello,A M, AU - Gracia Bouthelier,R, PY - 2002/4/3/pubmed PY - 2002/9/21/medline PY - 2002/4/3/entrez SP - 342 EP - 6 JF - Anales espanoles de pediatria JO - An. Esp. Pediatr. VL - 56 IS - 4 N2 - 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. SN - 0302-4342 UR - https://wwww.unboundmedicine.com/medline/citation/11927079/[Crouzon's_syndrome_with_acanthosis_nigricans]_ L2 - http://www.diseaseinfosearch.org/result/90 DB - PRIME DP - Unbound Medicine ER -