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Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.
Hum Genome Var
December 2024
Department of Genetic Counseling, Asahikawa Medical University Hospital, 2-1-1-1 Midorigaoka-Higashi, Asahikawa, Hokkaido, Japan.
We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.
View Article and Find Full Text PDFNeglected Bilateral Clubfoot Clubhand Deformity.
J Orthop Case Rep
July 2024
Department of Orthopaedics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
Introduction: Neglected bilateral clubfoot clubhand deformity is a mesomelic type of dysplasia that is characterized by disproportionate shortness of the middle segment of all limbs and is a form of short-limb dwarfism. Affected individuals are clinically of normal stature with particularly short mesomelic segments with nearly symmetric limb abnormalities.
Case Report: The patient was a 20-year-old male Indian who came to outpatient department for cosmetic purpose.
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
Mol Cytogenet
July 2024
Clinical Cytogenetics Laboratory, Center for Medical Genetics/IFF/Fiocruz, Rio de Janeiro, Brazil.
Background: Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and multiple congenital malformations which is described as a contiguous deletion syndrome involving the two genes SULF1 and SLCO5A1. The study of apparently balanced chromosomal rearrangements (BCRs) is a cytogenetic strategy used to identify candidate genes associated with Mendelian diseases or abnormal phenotypes. With the improved development of genomic technologies, new methods refine this search, allowing better delineation of breakpoints as well as more accurate genotype-phenotype correlation.
View Article and Find Full Text PDFMild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.
Eur J Hum Genet
June 2024
Shriners Hospital for Children, Montreal, QC, Canada.
Haploinsufficiency of the short stature homeobox-containing (SHOX) gene leads to a phenotypic spectrum ranging from Leri-Weill dyschondrosteosis (LWD) to SHOX-deficient short stature. SHOX nullizygosity leads to Langer mesomelic dysplasia. Pathogenic variants can include whole or partial gene deletions or duplications, point mutations within the coding sequence, and deletions of upstream and downstream regulatory elements.
View Article and Find Full Text PDFPrenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities.
Prenat Diagn
May 2024
The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Article Synopsis
- Autosomal recessive ROR2-Robinow syndrome is linked to mutations in the ROR2 gene, leading to various physical abnormalities.
- A fetal ultrasound at 24 weeks revealed significant traits such as enlarged head, facial deformities, and skeletal issues in the patient.
- Genetic testing identified two pathogenic variants in the ROR2 gene, one inherited from the mother and another that likely occurred de novo, both of which contribute to the observed symptoms and physical findings at autopsy.
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