In the article, we report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic dysplasia, a homozygous deletion of the 3' enhancer of the SHOX gene, and consanguineous parents affected by Léri-Weill dyschondrosteosis, performing a literature review of the primary forms of mesomelic dysplasia. A proper identification of the type of mesomelic dysplasia is important for genetic and reproductive counseling, estimation of child growth and prevention and/or treatment of complications. A competent pathologist could provide important diagnostic information, orienting or confirming the echographic or genetic suspect, sometimes suggesting diagnostic hypothesis concerning parental unidentified congenital syndromes.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/15513815.2013.807322 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
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.
Mild 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 PDFVariant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Genome Med
May 2024
Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.
Article Synopsis
- The KINSSHIP syndrome, caused by de novo variants in the AFF3 gene, leads to intellectual disability, mesomelic dysplasia, and horseshoe kidneys, and is characterized by a dominant-negative effect from increased levels of AFF3.
- Researchers screened intellectual disability cohorts and used animal models to explore additional inheritance patterns and found a range of variants in AFF3, including a de novo duplication linked to a severe phenotype and variants that caused milder symptoms.
- Analysis of zebrafish models confirmed the pathogenic effects of specific AFF3 variations, showing that some mutations disrupted normal function while others led to more severe conditions in individuals with homozygous or compound heterozygous variants.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
June 2024
Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK. Electronic address:
Article Synopsis
- This study investigates the role of inversions—structural variants that involve the rearrangement of DNA—in genetic diseases, using data from 33,924 families involved in the 100,000 Genomes Project.
- Researchers identified 47 ultra-rare rearrangements, including de novo inversions, in genes linked to disease, with analyses correlating genetic findings to clinical outcomes in some cases, including a specific diagnosis for three family members.
- The findings suggest that while inversions are less common in genetic diseases compared to other structural variants, they can significantly contribute to the etiology in approximately 1 in 750 families with rare conditions.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!