Robinow syndrome (RS) is an extremely rare condition. Characteristic craniofacial findings of RS include a fetal facial appearance, ear abnormalities and oral findings. The aim of this case report was to evaluate the oral findings of a 26-year-old man with RS and to describe the dental treatments performed. The patient had short stature, vertebral anomalies, short and broad fingers, a fetal facial appearance, gingival hyperplasia, fissured tongue, caries and multiple impacted teeth. Periodontal and restorative dental treatments were performed under aseptic conditions with due precautions. No surgical treatment was performed to the impacted teeth because of the lack of symptoms.
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http://dx.doi.org/10.17096/jiufd.86251 | DOI Listing |
Prenat Diagn
August 2024
Division of Medical Genetics, Stanford University Department of Pediatrics, Stanford, California, USA.
Due to abnormal prenatal ultrasound findings of femoral shortening and flattened facial profile, a G2P0 pregnant patient underwent an amniocentesis at 15 weeks of gestation for proband-only exome sequencing. Bioinformatic filtering for genes included on the laboratory's extended skeletal dysplasia panel identified a heterozygous, likely pathogenic, frameshift variant in DVL1 NM_001330311.2:c.
View Article and Find Full Text PDFDis Model Mech
June 2024
Life Sciences Institute and Faculty of Dentistry, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.
Robinow syndrome is a rare disease caused by variants of seven WNT pathway genes. Craniofacial features include widening of the nasal bridge and jaw hypoplasia. We used the chicken embryo to test whether two missense human FZD2 variants (1301G>T, p.
View Article and Find Full Text PDFAdv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Elife
May 2024
Department of Cell Biology and Human Anatomy, University of California, Davis School of Medicine, Davis, United States.
The receptor tyrosine kinase ROR2 mediates noncanonical WNT5A signaling to orchestrate tissue morphogenetic processes, and dysfunction of the pathway causes Robinow syndrome, brachydactyly B, and metastatic diseases. The domain(s) and mechanisms required for ROR2 function, however, remain unclear. We solved the crystal structure of the extracellular cysteine-rich (CRD) and Kringle (Kr) domains of ROR2 and found that, unlike other CRDs, the ROR2 CRD lacks the signature hydrophobic pocket that binds lipids/lipid-modified proteins, such as WNTs, suggesting a novel mechanism of ligand reception.
View Article and Find Full Text PDFPrenat Diagn
May 2024
The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
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