Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Micromelic upper limbs and cardiac defect: A fetal case of Holt-Oram syndrome identified in the first trimester.
Eur J Obstet Gynecol Reprod Biol
March 2021
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, China. Electronic address:
Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.
J Matern Fetal Neonatal Med
July 2021
Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
Article Synopsis
- Desbuquois dysplasia is a severe genetic disorder that leads to serious physical abnormalities, including short stature and joint issues, starting before birth.
- The condition is identified by specific physical and radiographic characteristics, including facial differences and joint dislocations.
- The study highlights a case where whole exome sequencing enabled an early prenatal diagnosis, even before typical ultrasound signs appeared.
Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.
Cytogenet Genome Res
September 2015
Institute of Human Genetics, University of Wuerzburg, Wuerzburg, Germany.
Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism. Here, we report on the postmortem identification of a de novo heterozygous mutation in the COL2A1 gene (c.1529G>A, p.
View Article and Find Full Text PDFAtelosteogenesis type I: autopsy findings.
Pediatr Dev Pathol
March 2012
Division of Anatomical Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
We have documented the clinical, radiologic, and autopsy findings of 2 fetuses with atelosteogenesis type I, aged 22 and 17 weeks. This rare autosomal dominant lethal skeletal dysplasia is caused by mutation in the FNLB gene. The 17-week-old fetus had some features of atelosteogenesis type II, notably "hitchhiker thumbs," a cleft palate, and midfacial flattening.
View Article and Find Full Text PDFPhenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.
Eur J Med Genet
January 2011
Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Dyssegmental dysplasia, Silverman-Handmaker type (DDSH; #MIM 224410) is an autosomal recessive form of lethal dwarfism characterized by a defect in segmentation and fusion of vertebral bodies components ("anisospondyly") and by severe limb shortening. It is caused by mutations in the perlecan gene (HSPG2), but so far, only three molecularly confirmed cases have been reported. We report a novel case of DDSH in a fetus that presented at 15 weeks gestation with encephalocele, severe micromelic dwarfism and narrow thorax.
View Article and Find Full Text PDFWant 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!