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Crouzon syndrome with acanthosis nigricans: a case-based update.
Childs Nerv Syst. 2011 Mar; 27(3):349-54.CN

Abstract

BACKGROUND

Crouzon syndrome with acanthosis nigricans also named Crouzono-dermo-skeletal is a clinically and genetically distinct entity. It associates a craniofacial phenotype to anomalies of the skin and long bones. This syndrome is due to a specific mutation in FGFR3 gene that can be identified by genetic testing.

ILLUSTRATIVE CASES

As in our two patients, not all these features might be present and some will be patent only in the infancy or early childhood. Moreover, other organs such as the kidneys might be affected.

DISCUSSION

Because several organs might be affected the recognition of such syndrome is important for a correct management of the patient as well as a proper information and genetic counseling of the families.

Authors+Show Affiliations

Unité de Chirurgie Craniofaciale, Neurochirurgie Pédiatrique Hôpital Necker Enfants Malades, Centre de Référence Maladies rares Dysostoses Craniofaciales, 149 rue de Sèvres, 75015 Paris, France. federico.dirocco@nck.aphp.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21136065

Citation

Di Rocco, Federico, et al. "Crouzon Syndrome With Acanthosis Nigricans: a Case-based Update." Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery, vol. 27, no. 3, 2011, pp. 349-54.
Di Rocco F, Collet C, Legeai-Mallet L, et al. Crouzon syndrome with acanthosis nigricans: a case-based update. Childs Nerv Syst. 2011;27(3):349-54.
Di Rocco, F., Collet, C., Legeai-Mallet, L., Arnaud, E., Le Merrer, M., Hadj-Rabia, S., & Renier, D. (2011). Crouzon syndrome with acanthosis nigricans: a case-based update. Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery, 27(3), 349-54. https://doi.org/10.1007/s00381-010-1347-z
Di Rocco F, et al. Crouzon Syndrome With Acanthosis Nigricans: a Case-based Update. Childs Nerv Syst. 2011;27(3):349-54. PubMed PMID: 21136065.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Crouzon syndrome with acanthosis nigricans: a case-based update. AU - Di Rocco,Federico, AU - Collet,Corinne, AU - Legeai-Mallet,Laurence, AU - Arnaud,Eric, AU - Le Merrer,Martine, AU - Hadj-Rabia,Smail, AU - Renier,Dominique, Y1 - 2010/12/07/ PY - 2010/09/13/received PY - 2010/11/14/accepted PY - 2010/12/8/entrez PY - 2010/12/8/pubmed PY - 2011/7/5/medline SP - 349 EP - 54 JF - Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery JO - Childs Nerv Syst VL - 27 IS - 3 N2 - BACKGROUND: Crouzon syndrome with acanthosis nigricans also named Crouzono-dermo-skeletal is a clinically and genetically distinct entity. It associates a craniofacial phenotype to anomalies of the skin and long bones. This syndrome is due to a specific mutation in FGFR3 gene that can be identified by genetic testing. ILLUSTRATIVE CASES: As in our two patients, not all these features might be present and some will be patent only in the infancy or early childhood. Moreover, other organs such as the kidneys might be affected. DISCUSSION: Because several organs might be affected the recognition of such syndrome is important for a correct management of the patient as well as a proper information and genetic counseling of the families. SN - 1433-0350 UR - https://wwww.unboundmedicine.com/medline/citation/21136065/Crouzon_syndrome_with_acanthosis_nigricans:_a_case_based_update_ L2 - https://dx.doi.org/10.1007/s00381-010-1347-z DB - PRIME DP - Unbound Medicine ER -