221 results match your criteria bifid uvula

Incidence of Symptomatic Submucous Cleft Palate in the Netherlands: A Retrospective Cohort Study Over a Period of 22 Years.

Cleft Palate Craniofac J 2020 Dec 3:1055665620977760. Epub 2020 Dec 3.

Department of Plastic Surgery, Amsterdam University Medical Center, Emma Children's Hospital, Amsterdam, the Netherlands.

Objective: To analyze the incidence of submucous cleft palate (SMCP) in a large national database and raise awareness among referring providers: pediatricians, speech pathologists, and dentists to minimize delay in diagnosis.

Design: Retrospective cohort study.

Setting: Tertiary setting. Read More

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December 2020

Identification of a Pathogenic Variant in a Patient With Loeys-Dietz Syndrome.

Front Genet 2020 27;11:479. Epub 2020 May 27.

Department of Cardiology, Wuhan Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Loeys-Dietz syndrome (LDS) is a rare connective tissue genetic disorder that is caused by a pathogenic variant in genes of transforming growth factor (TGF) beta receptor 1 (), , mothers against decapentaplegic homolog 2 (), , , or . It is characterized by aggressive vascular pathology, aneurysms, arterial tortuosity, bifid uvula, hypertelorism, and cleft palate. Here we present a 42-year-old female patient with LDS. Read More

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Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.

J Med Genet 2020 Oct 8;57(10):699-707. Epub 2020 Mar 8.

Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA

Loeys-Dietz syndrome (LDS), an autosomal dominant rare connective tissue disorder, has multisystemic manifestations, characterised by vascular tortuosity, aneurysms and craniofacial manifestations. Based on the associated gene mutations along the transforming growth factor-beta (TGF-β) pathway, LDS is presently classified into six subtypes. We present the oro-dental features of a cohort of 40 patients with LDS from five subtypes. Read More

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October 2020

Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.

Mol Genet Genomic Med 2020 04 26;8(4):e1178. Epub 2020 Feb 26.

Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.

Background: Agnathia-otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia, aglossia, and abnormally positioned auricles with or without associated anomalies. Variants affecting function of OTX2 and PRRX1, which together regulate the neural crest cells and the patterning of the first pharyngeal arch as well as skeletal and limb development, were identified to be causal for the anomaly in a few patients. Read More

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