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RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.
Mol Med Rep
March 2025
Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine Research, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518040, P.R. China.
Cartilage‑hair hypoplasia (CHH) is an autosomal recessive form of metaphyseal chondrodysplasia caused by RNA component of mitochondrial RNA processing endoribonuclease (RMRP) gene variants; however, its molecular etiology remains unclear. Whole‑exome sequencing was performed to detect possible pathogenic variants in a patient with a typical short stature and sparse hair. A co‑segregation analysis was also conducted and variants in the family members of the patient were confirmed by Sanger sequencing.
View Article and Find Full Text PDFBipedal static postural stability in children with achondroplasia compared to typically developed children in the age range of 9-12 years - A pilot study.
Gait Posture
March 2025
Sports Engineering / Movement Science Departement, Faculty for Human Sciences, Otto-von-Guericke University, Magdeburg, Germany.
Background: Postural stability is a key factor in maintaining an upright standing position. Children with average height (CAH) have elaborate general postural stability up to the age of seven years. Children with achondroplasia (ACH) face body disproportions like shorter arms and legs, bowing of the legs as well as hyperlordosis and hypokyphosis in the spine.
View Article and Find Full Text PDFManagement of Methicillin-Resistant Staphylococcus aureus-infected femoral nonunion during lengthening in achondroplasia using circular external fixator: a case report.
BMC Musculoskelet Disord
December 2024
Department of Orthopedic Surgery, Akita University Graduate School of Medicine, 1-1-1 Hondo, Akita, 010-8543, Japan.
Background: Achondroplasia, the most common form of rhizomelic dwarfism, occurs in approximately 1 in 25,000 individuals. Clinical features include attenuated growth, rhizomelic limb shortening, and craniofacial abnormalities. Limb-lengthening surgery is widely employed to improve quality of life.
View Article and Find Full Text PDFPrenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution.
Quant Imaging Med Surg
December 2024
Department of Obstetrics and Gynecology, Graduate School of Medicine Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Background: Fetal skeletal dysplasia (FSD) is a group of systemic bone and cartilage disorders that develop prenatally and can be detected using fetal ultrasonography. However, it is unsuitable for skeletal analysis because it is reflected by supersonic waves in the bone cortex. Three-dimensional computed tomography (3D-CT) is a suitable alternative and has improved the differential diagnosis of FSD during pregnancy.
View Article and Find Full Text PDFA Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations.
J Mol Diagn
December 2024
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah; Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Laboratories, Salt Lake City, Utah.
Mutation analysis provides confirmation of a clinical and radiological diagnosis of thanatophoric dysplasia types I and II (TD I and II). We developed a single multiplexed PCR and a single-nucleotide extension (SNE) assay to identify 14 common mutations causing 99% of TD I and TD II, including the challenging three adjacent mutations in the stop codon of exon 18 of the FGFR3 gene. The assay design also provides a solution for resolving SNE PCR product sizing using performance optimized polymer-7.
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