Pierre Robin syndrome is typically characterized by glossoptosis and retrognathia associated with cleft palate, respiratory and deglutition disturbances. Two morphological tendencies arise out of this 70-patient series, 50 of whom were managed with the same therapeutical regimen, which included labioglossopexy and was associated with only one case of death: "deforming" type Pierre Robin syndrome most commonly follows a favorable course with respect to both function and facial deformations, provided labioglossopexy is carried out sufficiently early. Indeed, this surgical operation allows for prompt restoration of normal function, thereby limiting the dysfunction-deformation vicious circle. This form of Pierre Robin syndrome may find its origin in the embryo's abnormal amniotic environment. "Malformation"-associated Pierre Robin syndrome often presents with combined anomalies, respiratory disturbances that may evolve into severe airway problems, impaired deglutition and abnormal brain development; in most cases, labioglossopexy will dramatically improve the immediate state of the child, although long-term prognosis as regards malformation is rather guarded.
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Int J Pediatr Otorhinolaryngol
January 2025
Dr. Elie E. Rebeiz Department of Otolaryngology - Head and Neck Surgery, Tufts Medical Center, Boston, MA, USA. Electronic address:
Background: Internal and external devices may be utilized in mandibular distraction osteogenesis (MDO) for the correction of symptomatic micrognathia in infants and children.
Purpose: To compare the rate and severity of infection between internal and external MDO devices.
Study Design, Setting, Sample: Retrospective cohort study utilizing an institutional database of patients who underwent MDO.
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.
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