Publikasi Scopus 2023 per tanggal 31 Januari 2023 (41 artikel)

Authors

Bangun K., Kreshanti P., Tania V., Ariani Aswin Y., Menna C., Aurino L.

Author S Id

36902624600;36192866200;57394760300;58062360300;57212563359;57212557917;

Title

Bilateral Cleft Lip and Palate in Ring Chromosome 7 Syndrome: A Case Report and Review of Clinical Characteristics

Year

2023

Source Title

Cleft Palate-Craniofacial Journal

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Issue

Art No

Page Start

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Cited By

Link

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85146155851&doi=10.1177%2f10556656221149243&partnerID=40&md5=8cd7193928c64c8397abb295b9d1b24f

Affiliations

Division of Plastic, Reconstructive and Aesthetic Surgery, Department of Surgery, Universitas Indonesia, Cipto Mangunkusumo General Hospital, Jakarta, Indonesia; Human Genetic Research Cluster, Indonesia Medical Education and Research Institute, Jakarta, Indonesia

Authors With Affiliations

Bangun, K., Division of Plastic, Reconstructive and Aesthetic Surgery, Department of Surgery, Universitas Indonesia, Cipto Mangunkusumo General Hospital, Jakarta, Indonesia; Kreshanti, P., Division of Plastic, Reconstructive and Aesthetic Surgery, Department of Surgery, Universitas Indonesia, Cipto Mangunkusumo General Hospital, Jakarta, Indonesia; Tania, V., Division of Plastic, Reconstructive and Aesthetic Surgery, Department of Surgery, Universitas Indonesia, Cipto Mangunkusumo General Hospital, Jakarta, Indonesia; Ariani Aswin, Y., Human Genetic Research Cluster, Indonesia Medical Education and Research Institute, Jakarta, Indonesia; Menna, C., Division of Plastic, Reconstructive and Aesthetic Surgery, Department of Surgery, Universitas Indonesia, Cipto Mangunkusumo General Hospital, Jakarta, Indonesia; Aurino, L., Division of Plastic, Reconstructive and Aesthetic Surgery, Department of Surgery, Universitas Indonesia, Cipto Mangunkusumo General Hospital, Jakarta, Indonesia

Abstract

This report presents a case of ring chromosome 7 syndrome with bilateral cleft lip and palate. A four-year-old boy presented with bilateral cleft lip and palate, microcephaly, clenched toes, cafe-au-lait spots, a history of epilepsy, and severe intellectual disability. Genetic karyotyping revealed 46 XY r(7) (p22q36). His cheiloplasty and delayed palatoplasty were successful. A review of 22 previous r(7) patients revealed that 22.7% had cleft lip and/or palate. This case demonstrates the importance of a multidisciplinary evaluation for cleft patients, particularly those with syndromic features and global developmental delay. © 2023, American Cleft Palate Craniofacial Association.

Author Keywords

bilateral cleft lip and palate syndrome; ring chromosome; ring chromosome 7 syndrome

Index Keywords

Funding Details

Funding Text 1

Funding Text 2

Funding Text 3

Publisher

SAGE Publications Ltd

Issn

10556656

Isbn

Pubmed Id

36624583

Document Type

Article

Sjr Best Quartile

Sjr

528

Sjr Rank

9465