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Crouzon with acanthosis nigricans. Further delineation of the syndrome.
Clin Genet. 2007 Nov; 72(5):405-10.CG

Abstract

Patients with Crouzon and acanthosis nigricans syndrome show craniofacial features similar to those observed in patients with classic Crouzon syndrome, in addition to acanthosis nigricans with peculiar characteristics. More severe physical manifestations, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, which are unusual in individuals with classic Crouzon syndrome, are reported in these patients. The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation. We describe two unrelated patients showing this mutation and compare their clinical features with those of other patients with CAN reported in the literature. In addition to craniosynostosis with crouzonoid facies and acanthosis nigricans (present in all patients), melanocytic nevi, choanal atresia or stenosis, hydrocephalus, Chiari malformations and oral abnormalities were observed in the majority of the 35 patients analyzed. Vertebral anomalies and conductive hearing loss were present with less frequency. Some characteristics considered typical of this condition (jaw cementomas, acanthomas and finger abnormalities) were absent in most of the patients.

Authors+Show Affiliations

División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, México.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17935505

Citation

Arnaud-López, L, et al. "Crouzon With Acanthosis Nigricans. Further Delineation of the Syndrome." Clinical Genetics, vol. 72, no. 5, 2007, pp. 405-10.
Arnaud-López L, Fragoso R, Mantilla-Capacho J, et al. Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet. 2007;72(5):405-10.
Arnaud-López, L., Fragoso, R., Mantilla-Capacho, J., & Barros-Núñez, P. (2007). Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clinical Genetics, 72(5), 405-10.
Arnaud-López L, et al. Crouzon With Acanthosis Nigricans. Further Delineation of the Syndrome. Clin Genet. 2007;72(5):405-10. PubMed PMID: 17935505.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Crouzon with acanthosis nigricans. Further delineation of the syndrome. AU - Arnaud-López,L, AU - Fragoso,R, AU - Mantilla-Capacho,J, AU - Barros-Núñez,P, PY - 2007/10/16/pubmed PY - 2008/1/5/medline PY - 2007/10/16/entrez SP - 405 EP - 10 JF - Clinical genetics JO - Clin. Genet. VL - 72 IS - 5 N2 - Patients with Crouzon and acanthosis nigricans syndrome show craniofacial features similar to those observed in patients with classic Crouzon syndrome, in addition to acanthosis nigricans with peculiar characteristics. More severe physical manifestations, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, which are unusual in individuals with classic Crouzon syndrome, are reported in these patients. The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation. We describe two unrelated patients showing this mutation and compare their clinical features with those of other patients with CAN reported in the literature. In addition to craniosynostosis with crouzonoid facies and acanthosis nigricans (present in all patients), melanocytic nevi, choanal atresia or stenosis, hydrocephalus, Chiari malformations and oral abnormalities were observed in the majority of the 35 patients analyzed. Vertebral anomalies and conductive hearing loss were present with less frequency. Some characteristics considered typical of this condition (jaw cementomas, acanthomas and finger abnormalities) were absent in most of the patients. SN - 0009-9163 UR - https://wwww.unboundmedicine.com/medline/citation/17935505/Crouzon_with_acanthosis_nigricans__Further_delineation_of_the_syndrome_ L2 - https://doi.org/10.1111/j.1399-0004.2007.00884.x DB - PRIME DP - Unbound Medicine ER -