A rare case of craniosynostosis: Pfeiffer-like syndrome in a neonatologist’s practice
D. M. Muscherova,
H. A. Sarkisyan,
L. D. Vorona,
A. B. Smolyannikova,
P. R. Deryugina,
K. S. Zizyukina,
Yu. L. Ishutina,
A. I. Krapivkin,
P. V. Shumilov https://doi.org/10.21508/1027-4065-2025-70-6-77-87
Abstract
Craniosynostoses (ICD-10: Q75.0) are pathological conditions associated with premature closure of the cranial sutures, resulting in cranial deformity, restricted brain growth and, without timely intervention, severe neurological disorders. They also correlate closely with various syndromal pathologies and are manifested by the presence of additional malformations in patients. Diagnostic difficulty is represented by situations when, in the presence of all phenotypic features of syndromal craniosynostosis, it is not possible to identify a genetic mutation, which requires a more thorough examination and a broad differential diagnosis. In the following clinical observation, we describe a unique case of Pfeiffer-like syndrome in a child with no identified characteristic genetic mutation and a favourable prognosis for life.
About the Authors
D. M. Muscherova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
H. A. Sarkisyan
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
L. D. Vorona
Pirogov Russian National Research Medical University ; V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
Russian Federation
Russian Federation
117513, Moscow
119620, Moscow
A. B. Smolyannikova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
P. R. Deryugina
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
K. S. Zizyukina
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
Yu. L. Ishutina
V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
Russian Federation
Russian Federation
119620, Moscow
A. I. Krapivkin
Pirogov Russian National Research Medical University ; V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
Russian Federation
Russian Federation
117513, Moscow
119620, Moscow
P. V. Shumilov
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
117513, Moscow
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Review
For citations:
Muscherova D.M., Sarkisyan H.A., Vorona L.D., Smolyannikova A.B., Deryugina P.R., Zizyukina K.S., Ishutina Yu.L., Krapivkin A.I., Shumilov P.V. A rare case of craniosynostosis: Pfeiffer-like syndrome in a neonatologist’s practice. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(6):77-87. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-6-77-87
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