Background: The tongue is an essential organ accounted for proper deglutition and articulation. Surgical repair should be planned soon after diagnosis of any structural abnormality to prevent later speech and swallowing disorders. The lobulated tongue could be isolated (sporadic) or in association with other disorders. Pierre Robin Sequence (PRS) consists of the clinical trial of congenital micrognathia, glossoptosis, and airway obstruction with variable inclusion of a cleft palate. We present the case of a rare congenital tri-lobed tongue with Pierre Robin sequence and its surgical management in our hospital setting.
Case Presentation: Six-month-old boy presented with severe retrognathia, high arch, complete isolated cleft palate, and a bizarre mass in the oral cavity instead of his tongue that led to disruption of his swallowing. The mass (deformed tongue) check clearly, and the normal shape of the tongue was restored through multiple local randomized flaps. Dramatic improvement in swallowing was noticed 6 months after surgery during postoperative follow-up.
Discussion: We present the case of a patient with a tri-lobed tongue with Pierre Robin sequence characterized by severe retrognathia, high arch, and complete isolated cleft palate. This seems to be the first reported case of this particular craniofacial anomaly.
Conclusion: The management of infants with the Pierre Robin sequence is complex, and much still needs to be learned and practiced. Congenital tri-lobed tongue with a cleft as part of the Pierre Robin sequence is a very rare malformation. Early repair of the tongue is important to assist the baby in adapting to speech and swallowing as they grow.
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http://dx.doi.org/10.1097/SCS.0000000000009116 | DOI Listing |
HGG Adv
January 2025
Department of Surgery, Division of Orthopaedics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:
SOX9 encodes an SRY-related transcription factor critical for chondrogenesis and sex determination among other processes. Loss-of-function variants cause campomelic dysplasia and Pierre Robin Sequence, while both gain- and loss-of-function variants cause disorders of sex development. SOX9 has also been linked to scoliosis and cancers, but variants are undetermined.
View Article and Find Full Text PDFJ Craniofac Surg
January 2025
Division of Plastic and Reconstructive Surgery, Children's National Hospital.
Facial nerve dysfunction (FND) is a well-recognized but poorly documented complication of mandibular distraction osteogenesis (MDO) for Robin sequence (RS). This study aims to document the authors' experiences with FND and identify risk factors associated with this adverse event. A retrospective review of a prospectively gathered database was performed to identify patients with RS who underwent MDO at the authors' institution from March 2016 to June 2023.
View Article and Find Full Text PDFNat Commun
January 2025
Center for Integrative Genomics, University of Lausanne, Faculty of Biology and Medicine, Lausanne, Switzerland.
The energetic demands of proliferating cells during tumorigenesis require close coordination between the cell cycle and metabolism. While CDK4 is known for its role in cell proliferation, its metabolic function in cancer, particularly in triple-negative breast cancer (TNBC), remains unclear. Our study, using genetic and pharmacological approaches, reveals that CDK4 inactivation only modestly impacts TNBC cell proliferation and tumor formation.
View Article and Find Full Text PDFCleft Palate Craniofac J
January 2025
Department of Physiology and Medical Biochemistry, Faculty of Medicine, Airlangga University, Surabaya, Indonesia.
Objective: This study compares mandibular distraction osteogenesis (MDO) and tracheostomy in managing severe airway obstruction in patients with the Pierre Robin sequence (PRS).
Design: A systematic review and meta-analysis following PRISMA guidelines was performed. Literature searches were conducted across PubMed, ScienceDirect, Cochrane Library, Scopus, E.
J Craniofac Surg
January 2025
Department of Oral and Maxillofacial Surgery, Guangzhou Medical University Affiliated Women and Children's Medical Center, Guangzhou, China.
The aim of this study was to explore the factors influencing the quality of new bone formation after distraction osteogenesis in children with Pierre Robin sequence (PRS). Using cone-beam computed tomography (CBCT), bone density relative grayscale values of the region of new bone formation before and 3 to 4 months after mandibular distraction osteogenesis (MDO) were measured in 80 children with PRS, and correlation analysis was conducted with the potential clinical influencing factors of the children. CBCT reconstruction of the panoramic film showed that the new bone formation was good at 3 to 4 months after MDO.
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