The Experts below are selected from a list of 234 Experts worldwide ranked by ideXlab platform
P Barrosnunez - One of the best experts on this subject based on the ideXlab platform.
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crouzon with Acanthosis Nigricans further delineation of the syndrome
Clinical Genetics, 2007Co-Authors: L Arnaudlopez, R Fragoso, J Mantillacapacho, P BarrosnunezAbstract: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.
L Arnaudlopez - One of the best experts on this subject based on the ideXlab platform.
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crouzon with Acanthosis Nigricans further delineation of the syndrome
Clinical Genetics, 2007Co-Authors: L Arnaudlopez, R Fragoso, J Mantillacapacho, P BarrosnunezAbstract: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.
Seth J Orlow - One of the best experts on this subject based on the ideXlab platform.
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cutaneous features of crouzon syndrome with Acanthosis Nigricans
JAMA Dermatology, 2013Co-Authors: Timothy P Wu, Seth J OrlowAbstract:Importance Crouzon syndrome with Acanthosis Nigricans is a distinct disorder caused by a mutation in the FGFR3 gene, featuring craniosynostosis, characteristic facial features, and atypical and extensive Acanthosis Nigricans. Other cutaneous findings have not been thoroughly described. Observations We report 6 cases and summarize the existing literature with regard to the cutaneous manifestations of this disorder. All patients have widespread, early-onset Acanthosis Nigricans. Patients often have prominent hypopigmented scars at surgical sites and nevi arising early in childhood. Conclusions and Relevance In addition to craniofacial malformations, Crouzon syndrome with Acanthosis Nigricans results in characteristic cutaneous findings.
J Mantillacapacho - One of the best experts on this subject based on the ideXlab platform.
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crouzon with Acanthosis Nigricans further delineation of the syndrome
Clinical Genetics, 2007Co-Authors: L Arnaudlopez, R Fragoso, J Mantillacapacho, P BarrosnunezAbstract: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.
R Fragoso - One of the best experts on this subject based on the ideXlab platform.
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crouzon with Acanthosis Nigricans further delineation of the syndrome
Clinical Genetics, 2007Co-Authors: L Arnaudlopez, R Fragoso, J Mantillacapacho, P BarrosnunezAbstract: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.
