Oral-Facial-Digital Syndrome :A Case Report
Background: The oral-facial-digital (OFD) syndrome is a group of hereditary disorders, manifested by anomalies of the oral cavity, face and digits that may be associated with cerebral malformations and polycystic kidney disorder. The condition is associated with either X-linked or autosomal recessiv...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Golestan University Of Medical Sciences
2021-01-01
|
| Series: | Journal of Clinical and Basic Research |
| Subjects: | |
| Online Access: | http://jcbr.goums.ac.ir/article-1-287-en.html |
| _version_ | 1797974469267947520 |
|---|---|
| author | Sabry Nasr Ahmed Amna A Ahmed |
| author_facet | Sabry Nasr Ahmed Amna A Ahmed |
| author_sort | Sabry Nasr Ahmed |
| collection | DOAJ |
| description | Background: The oral-facial-digital (OFD) syndrome is a group of hereditary disorders, manifested by anomalies of the oral cavity, face and digits that may be associated with cerebral malformations and polycystic kidney disorder. The condition is associated with either X-linked or autosomal recessive inheritance. Herein, we report a case of OFD syndrome with various manifestations.
Case description: The case was a female baby with the features of the OFD syndrome. The family history was negative. The baby was the product of a non-consanguineous marriage. Diagnosis of OFD syndrome was confirmed by chromosomal microarray. The case had features of OFD type 1 in addition to central nervous system abnormalities. The chromosomal study of the parents was normal. Consultation with the related subspecialties were requested for management of the case.
Conclusion: OFD syndrome is a very rare conditions, which can be easily diagnosed. Cooperation of the related subspecialities is very important for better management of these cases |
| first_indexed | 2024-04-11T04:20:27Z |
| format | Article |
| id | doaj.art-432c4db972184cb3bcc4d79422421543 |
| institution | Directory Open Access Journal |
| issn | 2538-3736 |
| language | English |
| last_indexed | 2024-04-11T04:20:27Z |
| publishDate | 2021-01-01 |
| publisher | Golestan University Of Medical Sciences |
| record_format | Article |
| series | Journal of Clinical and Basic Research |
| spelling | doaj.art-432c4db972184cb3bcc4d794224215432022-12-30T17:18:27ZengGolestan University Of Medical SciencesJournal of Clinical and Basic Research2538-37362021-01-015116Oral-Facial-Digital Syndrome :A Case ReportSabry Nasr Ahmed0Amna A Ahmed1 Department of Neonatology, Women Wellness and Research, Hamad Medical Corporation, Doha, Qatar Pediatrics Department, Hamad Medical Corporation, Doha, Qatar Background: The oral-facial-digital (OFD) syndrome is a group of hereditary disorders, manifested by anomalies of the oral cavity, face and digits that may be associated with cerebral malformations and polycystic kidney disorder. The condition is associated with either X-linked or autosomal recessive inheritance. Herein, we report a case of OFD syndrome with various manifestations. Case description: The case was a female baby with the features of the OFD syndrome. The family history was negative. The baby was the product of a non-consanguineous marriage. Diagnosis of OFD syndrome was confirmed by chromosomal microarray. The case had features of OFD type 1 in addition to central nervous system abnormalities. The chromosomal study of the parents was normal. Consultation with the related subspecialties were requested for management of the case. Conclusion: OFD syndrome is a very rare conditions, which can be easily diagnosed. Cooperation of the related subspecialities is very important for better management of these caseshttp://jcbr.goums.ac.ir/article-1-287-en.htmlanomaliesoral-facial-digital syndromex-linkedneonates |
| spellingShingle | Sabry Nasr Ahmed Amna A Ahmed Oral-Facial-Digital Syndrome :A Case Report Journal of Clinical and Basic Research anomalies oral-facial-digital syndrome x-linked neonates |
| title | Oral-Facial-Digital Syndrome :A Case Report |
| title_full | Oral-Facial-Digital Syndrome :A Case Report |
| title_fullStr | Oral-Facial-Digital Syndrome :A Case Report |
| title_full_unstemmed | Oral-Facial-Digital Syndrome :A Case Report |
| title_short | Oral-Facial-Digital Syndrome :A Case Report |
| title_sort | oral facial digital syndrome a case report |
| topic | anomalies oral-facial-digital syndrome x-linked neonates |
| url | http://jcbr.goums.ac.ir/article-1-287-en.html |
| work_keys_str_mv | AT sabrynasrahmed oralfacialdigitalsyndromeacasereport AT amnaaahmed oralfacialdigitalsyndromeacasereport |