Results 41 to 50 of about 69,523 (324)

Post-surgical dentofacial deformities and dental treatment needs in cleft-lip-palate children: A clinical study

open access: yesJournal of Indian Society of Pedodontics and Preventive Dentistry, 2011
Background: Cleft lip and palate is a common congenital defect. It is one of the most common facial deformities occurring in major racial and ethnic groups.
V Krishna Priya   +3 more
doaj   +1 more source

Retrospective longitudinal analysis of phonetic and phonological cleft palate speech characteristics [PDF]

open access: yes, 2015
In this study, we analysed phonetic and phonological consonant characteristics of cleft palate speech (CPS) at ages 5 and 10 in cleft palate with/without cleft lip (CP±CL) based on Cleft Audit Protocol for Speech – Augmented (CAPS-A) data collected in ...
Cohen, Wendy   +3 more
core  

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

The risk of nonsyndromic cleft lip with or without cleft palate and Vax1 rs7078160 polymorphisms in southern Han Chinese

open access: yesBrazilian Journal of Otorhinolaryngology, 2021
Introduction: Non-syndromic cleft lip with or without cleft palate is a common worldwide birth defect due to a combination of environmental and genetic factors.
Qian Wang   +5 more
doaj  

Stages of logopedic rehabilitation of infants with congenital cleft lip and palate [PDF]

open access: yes, 2019
В статье рассматриваются приемы работы логопеда с детьми раннего возраста с врожденной расщелиной губы и неба и раскрываются особенности применения логопедического воздействия в соответствии с этапами хирургического вмешательства.The article deals with ...
Obukhova, N. V.   +3 more
core   +1 more source

PREVALENCE OF IRON DEFICIENCY ANEMIA IN CHILDREN WITH CLEFT LIP AND CLEFT PALATE- A RETROSPECTIVE STUDY. [PDF]

open access: yes, 2023
Background: Cleft lip and/or cleft palate are the most prevalent craniofacial anomalies visible to the naked eye. Variations in haematological parameters can be used to determine if the immune system of these patients has been altered as a result of ...
Ashika Banu   +3 more
core   +2 more sources

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio   +13 more
wiley   +1 more source

Lip symmetry following rotation advancement cleft lip repair in 5-year-old children treated by Ralph Millard and Ron Pigott

open access: yesJPRAS Open, 2022
Objective: To compare the symmetry of the lip following Rotation-Advancement cleft lip repair by Millard and Pigott and to investigate the effect on the symmetry of cleft side and gender by using different surgical protocols.
F. Maggiulli   +8 more
doaj  

THE INFLUENCE OF CLEFT LIP AND PALATE SEVERITY ON SURGICAL OUTCOMES

open access: yesJurnal Rekonstruksi dan Estetik, 2023
Highlights: • The severity of unilateral CLP was assessed by categorizing preoperative photo data based on the severity of the cleft, and this severity was then correlated with the surgical outcomes. • The way wounds heal is influenced by the width of
Ruby Riana Asparini   +4 more
doaj   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong   +16 more
wiley   +1 more source

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