Oral-facial-digital syndrome type 1 (OMIM #311200) is an X-linked dominant, developmental disorder. Among the 13 described clinical variants of oral-facial-digital syndrome, oral-facial-digital syndrome type 1 is of significance to dermatologists due to presence of congenital milia and hypotrichosis, not described in other variants. Since oral-facial-digital syndrome type 1 is genetically a distinct entity, awareness of these features help to clinically delineate this from other variants.
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Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.
Genes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
View Article and Find Full Text PDFCase series of kidney transplantation in two pediatric recipients with rare genetic diseases and intellectual disability.
BMC Pediatr
December 2024
Department of Surgery, University of Miami Miller School of Medicine, Jackson Memorial Hospital, Miami, FL, USA.
Background: Kidney transplantation is the gold standard treatment for end-stage kidney disease in children. Rare genetic systemic diseases associated with cystic kidney disease such as COL4A1-related disorder and oral facial digital syndrome type 1 could contribute to end-stage kidney disease in the pediatric population but there is scarce evidence in the literature regarding kidney transplant outcomes in these cases.
Case Presentation: We report a case of a 5-year-old male with COL4A1-related disorder who received a living-related donor kidney transplant from his mother.
Comprehensive treatment approach for hemifacial microsomia: Integrating orthognathic surgery with sequential customized implantation.
J Plast Reconstr Aesthet Surg
December 2024
Department of Oral and Caniomaxillofacial Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; College of Stomatology, Shanghai Jiao Tong University, Shanghai, China; National Center for Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Shanghai, China. Electronic address:
Objective: This study aimed to evaluate the clinical outcomes of combining orthognathic surgery with staged patient-specific implants (PSIs) for comprehensive craniofacial asymmetry reconstruction in adult patients with hemifacial microsomia (HFM).
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Identification of Human Pathways Acting on Nuclear Non-Coding RNAs Using the Mirror Forward Genetic Approach.
bioRxiv
September 2024
Dept. of Genetics and Biochemistry, Clemson University, Clemson, SC 29631, USA.
Article Synopsis
- Researchers developed a novel single-cell method called "Mirror" that allows for the study of nuclear non-coding RNAs by visualizing their pathways through cytoplasmic fluorescence.
- This technique successfully identified key components involved in the maturation and degradation of the long non-coding RNA MALAT1, as well as other RNA complexes critical for RNA processing.
- Additionally, the study found that the DEAD-box helicase DDX59 is associated with Oral-Facial-Digital syndrome and plays a role in stabilizing MALAT1 RNA, suggesting important links between these pathways and human diseases.
Cilia are essential organelles and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis in animals models but remains poorly defined. Notably, all but one subunit of the CPLANE complex have been implicated in human ciliopathy.
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