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[Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children].
Zhonghua Er Ke Za Zhi
October 2024
Department of Endocrinology and Metabolism, Anhui Provincial Children's Hospital, Hefei 230000, China.
Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.
J Am Acad Orthop Surg Glob Res Rev
August 2024
From the Geisinger Commonwealth School of Medicine, Scranton, PA (Ms. E. Ellison, Mr. Grampp, Mr. S. Ellison); the Department of Pediatric Genetics, Geisinger Medical Center, Danville, PA (Dr. A. Seeley); and the Department of Orthopaedic Surgery, Geisinger Medical Center, Danville, PA (Dr. M. Seeley).
Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant genetic malformation disorder which is best characterized by both its craniofacial and skeletal abnormalities. The purpose of this paper is to identify the various orthopedic manifestations and management in patients with TRPS. A systematic search of PubMed, Ovid MEDLINE, and Cochrane Library was conducted.
View Article and Find Full Text PDFDeletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.
Hum Mol Genet
September 2024
Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan.
Trichorhinophalangeal syndrome (TRPS) is a genetic disorder caused by point mutations or deletions in the gene-encoding transcription factor TRPS1. TRPS patients display a range of skeletal dysplasias, including reduced jaw size, short stature, and a cone-shaped digit epiphysis. Certain TRPS patients experience early onset coxarthrosis that leads to a devastating drop in their daily activities.
View Article and Find Full Text PDFHow many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
Eur J Med Genet
June 2024
Sheffield Institute for Translational Neuroscience, The University of Sheffield, Sheffield, UK. Electronic address:
Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age. Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the FBXO11 gene (NM_001190274.
View Article and Find Full Text PDFClinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Eur J Med Genet
June 2024
Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Article Synopsis
- Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome with unique facial, ectodermal, and skeletal traits, categorized into different types based on genetic causes.
- A study at Aarhus University Hospital analyzed 15 patients with TRPS type I, highlighting a median age of diagnosis at 15 years and a follow-up period of 10 years, revealing a prevalence of 0.5 in 100,000 individuals.
- Common symptoms included fine hair, distinctive facial features, joint complaints, and skeletal anomalies, with no clear link between specific genetic mutations and the clinical symptoms, underscoring the importance of multidisciplinary care for effective diagnosis and management.
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