Results 71 to 80 of about 261,545 (359)

Long-term subjective outcomes of barbed reposition pharyngoplasty for obstructive sleep apnea syndrome treatment [PDF]

, 2020
Background: The purpose of this study was to evaluate long-term subjective outcomes of barbed reposition pharyngoplasty for obstructive sleep apnea syndrome (OSAS) treatment using a specific questionnaire, the Palate Postoperative Problem Score (PPOPS ...
Bianchi, G, Cammaroto, G, Cocuzza, S, Corso, RM, De Vito, A, Greco, A, Iannella G, Magliulo, G, Maniaci, A, Meccariello, G, Napoli, G, Pelucchi, S, Sgarzani, R, Vallicelli B, Vicini, C   +14 more
core   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Oral papillary squamous cell carcinoma (OPSCC): a rare presentation in the palate

Journal of Oral Medicine and Oral Surgery, 2020
Introduction: Oral papillary squamous cell carcinoma (OPSCC) is a rare variant of squamous cell carcinoma with an unusual presentation in the palate. Observation: This case report presents a 68 year old male who reported with pain in the roof of the jaw ...
Karthik K.P., Balamurugan R., Sahana Pushpa T.   +2 more
doaj   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Palatal pain due to exostosis of the posterior palatal spine in a cleft patient

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Facial pain is a complex disorder to diagnose and to manage. Problems in the craniofacial area may present with conflicting and blurred symptomatology that may result in an obscured clinical picture where a single etiological factor may seem unlikely ...
Sharan Naidoo, Gieljam J Roode, Kurt-W Bütow   +2 more
doaj   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +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

, 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, De Paepe, Justine, Dochy, Frederick, Van Hoecke, Helen, Willems, Sara   +4 more
core   +2 more sources

PENATALAKSANAAN PLEOMORFIK ADENOMA PALATUM

Majalah Kedokteran Andalas, 2015
AbstrakPleomorfik adenoma merupakan tumor jinak campuran yang terdiri dari komponen sel epitel, mioepitel dan mesenkim yang tersusun dalam beberapa variasi. Tumor ini paling sering ditemukan pada kelenjar liur.
Sukri Rahman, Bestari Jaka Budiman, Yolazenia Yolazenia   +2 more
doaj   +1 more source

Maternal risk factors for oral clefts: A case-control study [PDF]

, 2012
Introduction: A cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. This study explored the risk factors for oral clefts in Gorgan, Northern Iran. Materials and Methods: This hospital-based case-control
Golalipour, M.J., Kaviany, N., Mobasheri, E., Qorbani, M.   +3 more
core  

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source