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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573473PMC
http://dx.doi.org/10.17096/jiufd.86251DOI Listing

Publication Analysis

Top Keywords

robinow syndrome
8
fetal facial
8
facial appearance
8
oral findings
8
dental treatments
8
treatments performed
8
impacted teeth
8
dental management
4
management orofacial
4
orofacial manifestations
4

Similar Publications

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 PDF

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 PDF
Article Synopsis
  • Ventricular septal defects (VSDs) are common congenital heart diseases, making up about 40% of cardiac malformations and can occur alone or with other defects.
  • The genetic causes of VSD are complex, involving chromosomal abnormalities and gene mutations, including known syndromes like DiGeorge and Holt-Oram.
  • Recent advancements like comparative genomic hybridization have revealed numerous copy number variations linked to VSD, highlighting the genetic diversity in affected patients.
View Article and Find Full Text PDF

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 PDF

Prenatal 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.
View Article and Find Full Text PDF

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!