Robinow syndrome (also named "fetal face syndrome") includes a series of anomalies including mesomelic brachymelia, bifid terminal phalanges of the hands and feet, abnormalities of vertebrae and ribs, and hypoplastic external genitalia. A midline cleft of the lower lip and mandible is an extremely rare maxillofacial deformity. Seventy cases have so far been described to our knowledge. We report a patient with Robinow syndrome and midline cleft of the lower lip and mandible and describe the reconstruction of these anomalies. We propose that this anomaly should be added to the range of malformations associated with the syndrome.
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http://dx.doi.org/10.1080/02844310410032792 | DOI Listing |
Cleft Palate Craniofac J
December 2024
Department of Plastic and Reconstructive Surgery, Craniofacial Surgery and Burn Department, Khoula Hospital, Mina Al Fahal, Muscat, Sultanate of Oman.
Objective: To date, there are no published studies From the Sultanate of Oman on the incidence or characteristics of craniosynostosis (CS). This is a population-based epidemiological study of the incidence of CS.
Methods: The prospective registry of the craniofacial surgery unit in Khoula Hospital was used to retrieve data on all individuals with CS treated between 2004 and 2023.
Elife
December 2024
Department of Craniofacial Biology, School of Dental Medicine, University of Colorado Anschutz Medical Campus, Aurora, United States.
Signaling through the platelet-derived growth factor receptor alpha (PDGFRα) plays a critical role in craniofacial development. Phosphatidylinositol 3-kinase (PI3K)/Akt is the primary effector of PDGFRα signaling during mouse skeletal development. We previously demonstrated that Akt phosphorylates the RNA-binding protein serine/arginine-rich splicing factor 3 (Srsf3) downstream of PI3K-mediated PDGFRα signaling in mouse embryonic palatal mesenchyme (MEPM) cells, leading to its nuclear translocation.
View Article and Find Full Text PDFJ Anat
December 2024
Research and Development Center for Precision Medicine, University of Tsukuba, Ibaraki, Japan.
Orofacial morphology in mammals plays a critical role in essential life functions such as feeding and communication, which are influenced by the shapes of these anatomical structures. Bats are known to exhibit highly diversified orofacial morphotypes within their clade, reflecting their varied diets and echolocation behaviors. The presence of bony discontinuities between the premaxilla and maxilla or among the premaxillae is a notable feature of bat orofacial morphology, observed in certain lineages.
View Article and Find Full Text PDFChilds Nerv Syst
December 2024
Division of Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Split notochord syndrome (SNS) is a rare congenital anomaly characterized by incomplete midline notochordal integration during gastrulation, leading to segmental clefts of the spine. This case report describes a female patient with symptomatic cervico-dorsal SNS associated with a neurenteric cyst (NEC), intrathoracic gut duplication, and secondary hydrocephalus. Multistep surgical interventions were performed, including hydrocephalus management, excision of the cyst and gut duplication, and detethering with sectioning of the filum.
View Article and Find Full Text PDFDiagnostics (Basel)
November 2024
Department of Restorative Dentistry and Prosthodontics, College of Dentistry, Majmaah University, Al Majmaah 11952, Saudi Arabia.
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