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Orofaciodigital syndrome type I in a twelve-year-old child
https://doi.org/10.21508/1027-4065-2024-69-6-79-84
Abstract
Orofaciodigital syndrome type I is a rare (orphan) disease with a prevalence of 1:50,000 to 1:250,000, characterized by craniofacial, oral, and digital anomalies, as well as involvement of internal organs, including the kidneys. Orofaciodigital syndrome type I is inherited in an X-linked dominant manner, primarily affecting females, and arises from defects in the formation of primary cilia. This article presents a clinical case of a 12-year-old patient diagnosed with orofaciodigital syndrome type I, along with a review of the pathogenic mechanisms and clinical manifestations of the syndrome based on literature data. The article demonstrates the significant genetic heterogeneity and clinical variability among patients with mutations in the OFD1 gene.
About the Authors
M. P. Safonova
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
N. M. Zaykova
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
O. A. Serebryakova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
E. A. Potrokhova
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
L. S. Baleva
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Safonova M.P., Zaykova N.M., Serebryakova O.A., Potrokhova E.A., Baleva L.S. Orofaciodigital syndrome type I in a twelve-year-old child. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2024;69(6):79-84. (In Russ.) https://doi.org/10.21508/1027-4065-2024-69-6-79-84
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