Results 61 to 70 of about 450 (157)

Expanding the clinical phenotype and variant spectrum associated with RFX7

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract RFX7 encodes a transcription factor that is ubiquitously expressed and important for neural development. Haploinsufficiency of RFX7 is associated with intellectual disability, developmental delay, and diverse malformations of brain structures. Currently, there are only 16 clinically described individuals who have variants in RFX7.
Talia Sisroe, Attila Dos Santos, Alyssa L. Rippert, Christopher Gray, Cara M. Skraban, Beverly Nelson, Sarah Tefft, Ingo Helbig, Dong Li, Elizabeth J. Bhoj, Andrew K. Sobering   +10 more
wiley   +1 more source

Biallelic OTUD6B variants associated with a Kabuki syndrome‐like disorder in three siblings: A clinical report and literature review

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract Biallelic variants in the OTUD6B gene have been reported in the literature in association with an intellectual developmental disorder featuring dysmorphic facies, seizures, and distal limb abnormalities. Physical differences described for affected individuals suggest that the disorder may be clinically recognizable, but previous publications ...
Balram Gangaram, Virgina Lee, Anne Slavotinek   +2 more
wiley   +1 more source

Reliability of the Hazelbaker Assessment Tool for Lingual Frenulum Function

International Breastfeeding Journal, 2006
Background About 3% of infants are born with a tongue-tie which may lead to breastfeeding problems such as ineffective latch, painful attachment or poor weight gain. The Hazelbaker Assessment Tool for Lingual Frenulum Function (HATLFF) has been developed
James Jennifer P, Amir Lisa H, Donath Susan M   +2 more
doaj   +1 more source

Management of Ankyloglossia and Breastfeeding Difficulties in the Newborn: Breastfeeding Sessions, Myofunctional Therapy, and Frenotomy

Case Reports in Pediatrics, 2016
The problems of suction in newborns give rise to multiple consequences for both the mother and the newborn. The objective of this paper is to present a case of ankyloglossia (“tongue-tie”) and the suction problems that were treated by a multidisciplinary
Elvira Ferrés-Amat, Tomasa Pastor-Vera, Paula Rodríguez-Alessi, Eduard Ferrés-Amat, Javier Mareque-Bueno, Eduard Ferrés-Padró   +5 more
doaj   +1 more source

Assessment and Management of Maxillary Labial Frenum—A Scoping Review

Diagnostics
Background: The maxillary labial frenum (MLF) is a soft tissue fold connecting the upper lip to the alveolar process. Abnormal attachment can cause periodontal, functional, and esthetic problems.
Ryan Kinney, Richard C. Burris, Ryan Moffat, Konstantinia Almpani   +3 more
doaj   +1 more source

Ankyloglossia in Children, a Cause of Obstructive Sleep Apnoea: Case Report of Paediatric Ankyloglossia and Sleep Apnoea: DISE Resolves the Mystery. [PDF]

Children (Basel)
Tongue mobility is an obstructive sleep apnoea (OSA) marker and myofunctional therapy (MFT) target. For this reason, all paediatric patients with sleep-disordered breathing should require a combined functional assessment from an ear, nose, and throat ...
Valderrama-Penagos JX, Rodríguez Alcalá L, Plaza G, Baptista P, Garcia Iriarte MT, Correa EJ, O'Connor-Reina C.   +6 more
europepmc   +2 more sources

Ankyloglossia in infants and its impact on breastfeeding - etiology, diagnosis, treatment. Literature review

Quality in Sport
Ankyloglossia is a condition of limited tongue mobility caused by a restrictive lingual frenulum. Proper tongue mobility is essential for proper food intake (breastfeeding, speech development or proper development of facial bones).
Anita Pakuła, Ewa Hoppe-Mitera, Irena Sionek-Wręga, Julia Ślemp, Eliza Jakubowska, Krzysztof Kuźma, Karolina Bierć, Marcelina Grochowska, Ewelina Kisiel-Cybula   +8 more
doaj   +1 more source

Tie Tongue and Frenotomy: An Article Review

, 2023
Abstract Tongue-tie, or ankyloglossia, is a congenital condition characterized by a short, thickened, or tight lingual frenulum, restricting the normal movement of the tongue. This restriction can significantly impact various oral functions, including speech articulation, feeding, and oral hygiene.
Callea M, Wahjuningrum DA, Cammarata-Scalisi F, Setiawan F, Fepiosandi RA, Ramadhan DL, Morabito A   +6 more
openaire   +1 more source

Forceful Milk Ejection Reflex and Tongue-Tied Neonates’ Breastfeeding Behaviour

Clinical and Experimental Obstetrics & Gynecology
Background: Forceful milk ejection reflex in mothers and tongue-tie in infants often cause breastfeeding difficulties. Our purpose was to observe the breastfeeding behavior of tongue-tied neonates, in the presence of forceful milk ...
Marta Muresan, Sorana Muresan
doaj   +1 more source

Aetiology, Diagnosis and Treatment of Ankyloglossia

Balkan Journal of Dental Medicine, 2017
This review paper occupies with the frequency, etiology, diagnosis, treatment and the possible complications of Ankyloglossia (AG). AG is a congenital anomaly and its range varies from 0,1% to 4,8 %. There are several methods for the diagnosis of AG. The
Charisi Christina, Koutrouli Anna, Moschou Athina, Arhakis Aristidis   +3 more
doaj   +1 more source