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Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
Am J Med Genet. 2001 Jan 01; 98(1):75-91.AJ

Abstract

A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the fibroblast growth factor receptor 3 (FGFR3) gene. At birth, individuals with this disorder have craniosynostosis, ocular proptosis, midface hypoplasia, choanal atresia, hydrocephalus, and they experience the onset of acanthosis nigricans during childhood. We report three cases and compare the clinical characteristics of our cases with the previously reported cases of this disorder. Since the Ala391Glu substitution in FGFR3 is close to the substitutions in the transmembrane domain that result in achondroplasia, we carefully reviewed the skeletal findings in six patients. We identified subtle radiographic findings of achondroplasia in all six cases including narrow sacrosciatic notches, short vertebral bodies, lack of the normal increase in interpediculate distance from the upper lumbar vertebrae caudally, and broad, short metacarpals and phalanges. Even before acanthosis nigricans appears, the presence of choanal atresia and hydrocephalus in an individual with features of Crouzon syndrome should suggest the diagnosis of CAN, and subtle skeletal findings can lend further support to this diagnosis.

Authors+Show Affiliations

Department of Pediatrics, Burns and Allen Research Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo 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
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

11426459

Citation

Schweitzer, D N., et al. "Subtle Radiographic Findings of Achondroplasia in Patients With Crouzon Syndrome With Acanthosis Nigricans Due to an Ala391Glu Substitution in FGFR3." American Journal of Medical Genetics, vol. 98, no. 1, 2001, pp. 75-91.
Schweitzer DN, Graham JM, Lachman RS, et al. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet. 2001;98(1):75-91.
Schweitzer, D. N., Graham, J. M., Lachman, R. S., Jabs, E. W., Okajima, K., Przylepa, K. A., Shanske, A., Chen, K., Neidich, J. A., & Wilcox, W. R. (2001). Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. American Journal of Medical Genetics, 98(1), 75-91.
Schweitzer DN, et al. Subtle Radiographic Findings of Achondroplasia in Patients With Crouzon Syndrome With Acanthosis Nigricans Due to an Ala391Glu Substitution in FGFR3. Am J Med Genet. 2001 Jan 1;98(1):75-91. PubMed PMID: 11426459.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. AU - Schweitzer,D N, AU - Graham,J M,Jr AU - Lachman,R S, AU - Jabs,E W, AU - Okajima,K, AU - Przylepa,K A, AU - Shanske,A, AU - Chen,K, AU - Neidich,J A, AU - Wilcox,W R, PY - 2001/6/28/pubmed PY - 2001/9/14/medline PY - 2001/6/28/entrez SP - 75 EP - 91 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 98 IS - 1 N2 - A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the fibroblast growth factor receptor 3 (FGFR3) gene. At birth, individuals with this disorder have craniosynostosis, ocular proptosis, midface hypoplasia, choanal atresia, hydrocephalus, and they experience the onset of acanthosis nigricans during childhood. We report three cases and compare the clinical characteristics of our cases with the previously reported cases of this disorder. Since the Ala391Glu substitution in FGFR3 is close to the substitutions in the transmembrane domain that result in achondroplasia, we carefully reviewed the skeletal findings in six patients. We identified subtle radiographic findings of achondroplasia in all six cases including narrow sacrosciatic notches, short vertebral bodies, lack of the normal increase in interpediculate distance from the upper lumbar vertebrae caudally, and broad, short metacarpals and phalanges. Even before acanthosis nigricans appears, the presence of choanal atresia and hydrocephalus in an individual with features of Crouzon syndrome should suggest the diagnosis of CAN, and subtle skeletal findings can lend further support to this diagnosis. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/11426459/Subtle_radiographic_findings_of_achondroplasia_in_patients_with_Crouzon_syndrome_with_acanthosis_nigricans_due_to_an_Ala391Glu_substitution_in_FGFR3_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2001&volume=98&issue=1&spage=75 DB - PRIME DP - Unbound Medicine ER -