Faculty of Medicine, Diponegoro University, Indonesia
BibTex Citation Data :
@article{JBTR3578, author = {Nydia Sihombing and Asri Purwanti and Agustini Utari}, title = {A rare case of trisomy 18 with split-hand/split-foot malformation (SHFM)}, journal = {Journal of Biomedicine and Translational Research}, volume = {4}, number = {2}, year = {2018}, keywords = {trisomy 18 syndrome; split-hand-foot malformation; ectrodactyly; genetic testing; molecular genetics}, abstract = { Background: Trisomy 18 is one of the most prevalent chromosomal aberrations in newborns, with characteristic features of internal organs such as heart and kidney abnormalities, as well as craniofacial and musculoskeletal anomalies. We present a rare case of trisomy 18 with atypical features of split-hand/split-foot malformation (SHFM). Case Presentation: A four-months-old baby was brought to hospital with dyspnea and history of multiple congenital anomalies (MCA). Abnormalities found including brachycephaly, facial dysmorphisms, split hands and split feet. Other anomalies were atrial and ventricular septal defects, umbilical hernia, and right lung atelectasis. Based on physical examination and additional workups, SHFM was suspected. Genome-wide array analysis revealed gain on entire chromosome 18. Only few cases of trisomy 18 with SHFM have been reported, with split feet as the most findings. Conclusion: This case represents SHFM as a unique limb involvement in patient with trisomy 18, a valuable finding to be taken into account in trisomy 18 features. Careful examination and diagnosis as well as subsequent genetic counseling are granted, and routine cytogenetic analysis is vital as a first-tier diagnostic workup on patient with MCA. }, issn = {2503-2178}, pages = {41--44} doi = {10.14710/jbtr.v4i2.3578}, url = {https://ejournal2.undip.ac.id/index.php/jbtr/article/view/3578} }
Refworks Citation Data :
Background: Trisomy 18 is one of the most prevalent chromosomal aberrations in newborns, with characteristic features of internal organs such as heart and kidney abnormalities, as well as craniofacial and musculoskeletal anomalies. We present a rare case of trisomy 18 with atypical features of split-hand/split-foot malformation (SHFM).
Case Presentation: A four-months-old baby was brought to hospital with dyspnea and history of multiple congenital anomalies (MCA). Abnormalities found including brachycephaly, facial dysmorphisms, split hands and split feet. Other anomalies were atrial and ventricular septal defects, umbilical hernia, and right lung atelectasis. Based on physical examination and additional workups, SHFM was suspected. Genome-wide array analysis revealed gain on entire chromosome 18. Only few cases of trisomy 18 with SHFM have been reported, with split feet as the most findings.
Conclusion: This case represents SHFM as a unique limb involvement in patient with trisomy 18, a valuable finding to be taken into account in trisomy 18 features. Careful examination and diagnosis as well as subsequent genetic counseling are granted, and routine cytogenetic analysis is vital as a first-tier diagnostic workup on patient with MCA.
Article Metrics:
Last update:
The Authors submitting a manuscript do so on the understanding that if accepted for publication, copyright of the article shall be assigned to Journal of Biomedicine and Translational Research Diponegoro University as publisher of the journal.
Copyright encompasses non-exclusive rights to reproduce and deliver the article in all form and media, including reprints, photographs, microfilms and any other similar reproductions, as well as translations.
Journal of Biomedicine and Translational Research Diponegoro University, the Editors and the Advisory International Editorial Board make every effort to ensure that no wrong or misleading data, opinions or statements be published in the journal. In any way, the contents of the articles and advertisements published in the Journal of Biomedicine and Translational Research Diponegoro University (JBTR) are sole and exclusive responsibility of their respective authors and advertisers.
The Copyright Transfer Form can be downloaded here: [Copyright Transfer Form JBTR]
The copyright form should be signed originally and send to the Editorial Office in the form of original mail, scanned document or fax : Journal of Biomedicine and Translational Research Faculty of Medicine, Diponegoro UniversityJl. Prof. Soedarto, Kampus UNDIP Tembalang, Semarang, Central Java, Indonesia 50275, Telp.: +62-24-8454714, Fax.: +62-24-8454714Email: jbtr@fk.undip.ac.id
JBTR by https://ejournal2.undip.ac.id/index.php/jbtr is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
View My Stats