Toriello Carey syndrome is a rare recessive autosomal disease whose clinical manifestations are more evident in males. Some authors report that the general characteristics of this disease are agenesis of the corpus callosum, mental disability, convulsions, atrial septal defect, pulmonary artery stenosis, pyloric stenosis, and hypospadias. Facial and cranial alterations may occur, including hypertelorism, telecanthus, divergent strabismus, malformed ears, anteverted nares, retrognathism, and cleft palate. This paper reports on a 13-year-old male with Toriello Carey syndrome and leucoderma, and describes his oral problems and his dental care.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1754-4505.2011.00179.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Teaching perspectives on the communication of difficult news of genetic conditions to medical students.
Am J Med Genet A
January 2023
Department of Biochemistry, St. George's University, St. George's, Grenada.
Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination. Medical school curricula currently include training in breaking unexpected news; however, it is difficult to teach and assess.
View Article and Find Full Text PDFA Novel Pathogenic Variant in the Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.
J Pediatr Genet
September 2023
Department of Genetics, Hospital Universitario Doce de Octubre, Madrid, Spain.
Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the gene have been linked to syndromes including craniofacial anomalies, such as Toriello-Carey syndrome. Recently, truncating variants in the C-terminal portion of the MN1 transcriptional factor have been linked to a characteristic and distinct phenotype presenting with craniofacial anomalies and partial rhombencephalosynapsis, a rare brain malformation characterized by midline fusion of the cerebellar hemispheres with partial or complete loss of the cerebellar vermis.
View Article and Find Full Text PDFExperiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Am J Med Genet C Semin Med Genet
December 2020
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource-limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized 2-3 clinics per year on various islands in the Caribbean.
View Article and Find Full Text PDFExpanding the phenome and variome of skeletal dysplasia.
Genet Med
December 2018
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Article Synopsis
- The study investigates a large group of 411 patients from 288 families with skeletal dysplasia, focusing on their genetic information.
- It finds 224 potentially harmful genetic variations in 123 related genes, including five that may be significant for the disease, and identifies both established and new phenotypic categories of skeletal dysplasia.
- The research highlights a higher-than-average disease burden in their population and aims to enhance the diagnosis of skeletal dysplasia by broadening our understanding of its phenotypic and genetic diversity.
Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.
Mol Syndromol
December 2017
Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios.
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!