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Ahmed S N, Ahmed A A. Oral-Facial-Digital Syndrome :A Case Report. jcbr 2021; 5 (1) :1-6
URL: http://jcbr.goums.ac.ir/article-1-287-en.html
Oral-Facial-Digital Syndrome :A Case Report
Sabry Nasr Ahmed *1 , Amna A Ahmed2
1- Department of Neonatology, Women Wellness and Research, Hamad Medical Corporation, Doha, Qatar , sabrynasraly@yahoo.com
2- Pediatrics Department, Hamad Medical Corporation, Doha, Qatar
Abstract:   (4017 Views)
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
Keywords: Anomalies, Oral-facial-digital syndrome, X-linked, neonates
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Article Type: Case report | Subject: Basic medical sciences
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