Results 71 to 80 of about 235,287 (271)

Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

open access: yesFrontiers in Physiology, 2016
Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa ...
M. Burg   +4 more
semanticscholar   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

Periodontal Status Among Patients With Cleft Lip (CL), Cleft Palate (CP) and Cleft Lip, Alveolus and Palate (CLAP) In Chennai, India. A Comparative Study [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2015
Background: Long term health of the stomatognathic system as well as esthetic aspects is the therapeutic goals in patients with oro facial clefts. Aim: The aim of this study was to assess and compare the periodontal status of patients with cleft lip (
N.NAGAPPAN, Joseph John.
doaj   +1 more source

Success and Failure for Children Born with Facial Clefts in Africa: A 15-Year Follow-up [PDF]

open access: yes, 2018
Background: This study reviews the 15year program of our Department of Pediatric Surgery for the treatment and follow-up of children born with a cleft in Benin and Togo. Methods: We analyzed files of children born in Africa with a cleft.
Bossou, Raymond   +5 more
core  

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet   +10 more
wiley   +1 more source

Ear- and hearing-related impact on quality of life in children with cleft palate : development and pretest of a health-related quality of life (HRQOL) instrument

open access: yes, 2019
Objectives: To investigate to what extent middle ear problems and associated hearing loss affect quality of life (QoL) of children born with a cleft palate. Methods: Fifty-five children aged between 6 and 18 years, born with non-syndromic cleft palate +/
De Leenheer, Els   +4 more
core   +2 more sources

The national CLEFTNET project for individuals with cleft palate [PDF]

open access: yes, 2012
Although previous studies have demonstrated the benefits of using electropalatography (EPG) for treating therapy-resistant articulation errors associated with cleft palate, until recently access to this form of treatment has been limited. For the past 10
Crampin, Lisa   +4 more
core   +1 more source

The role of the tensor veli palatini muscle in the development of cleft palate-associated middle ear problems

open access: yesClinical Oral Investigations, 2016
ObjectiveOtitis media with effusion is common in infants with an unrepaired cleft palate. Although its prevalence is reduced after cleft surgery, many children continue to suffer from middle ear problems during childhood.
D. Heidsieck   +3 more
semanticscholar   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

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