Craniosynostosis: another feature of the 22q11.2 deletion syndrome

التفاصيل البيبلوغرافية
العنوان: Craniosynostosis: another feature of the 22q11.2 deletion syndrome
المؤلفون: Linton A. Whitaker, Melissa K. Maisenbacher, Donna M. McDonald-McGinn, Elaine H. Zackai, Richard E. Kirschner, Kim M. Keppler-Noreuil, Karen L. Ciprero, Galen M. Schauer, Virginia A. Hustead, Don LaRossa, Patrick S. Pasquariello, Karen W. Gripp, Scott P. Bartlett
المصدر: American journal of medical genetics. Part A. (4)
سنة النشر: 2005
مصطلحات موضوعية: Genetics, education.field_of_study, Chromosomes, Human, Pair 22, Population, Recem nascido, Infant, Newborn, Dysostosis, Infant, Syndrome, Biology, medicine.disease, Bioinformatics, Craniosynostosis, Craniosynostoses, Fatal Outcome, medicine, Humans, Deletion syndrome, Female, Differential diagnosis, Chromosome Deletion, education, Chromosome 22, Genetics (clinical)
الوصف: We report on the presence of craniosynostosis in four patients with the 22q11.2 deletion. In light of previous reports of the association, we propose that the occurrence is higher than the general population incidence. Therefore, we suggest that craniosynostosis should be considered a manifestation of the 22q11.2 deletion and conversely that the 22q11.2 deletion should be considered in the differential diagnosis of craniosynostosis.
تدمد: 1552-4825
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c551cec5f09d5c09ee2be65bc3141480
https://pubmed.ncbi.nlm.nih.gov/16001439
حقوق: CLOSED
رقم الأكسشن: edsair.doi.dedup.....c551cec5f09d5c09ee2be65bc3141480
قاعدة البيانات: OpenAIRE