Results 51 to 60 of about 114,004 (304)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

HARELIP AND CLEFT PALATE [PDF]

Southern Medical Journal, 1916
n ...
openaire   +1 more source

Comparative evaluation of the pharyngeal airways and related soft tissues of unilateral and bilateral cleft lip and palate patients with the noncleft individuals

, 2017
Aim: This study is a comparison of pharyngeal airways and associated soft tissues of unilateral and bilateral cleft lip and palate patients with the noncleft individuals. Materials and Methods: Twenty-four unilateral cleft lip and palate patients (UCLP),
Dogan S., Dogan, Servet, Aras I., Aras, Isil   +3 more
core   +1 more source

Dental Anomalies in Permanent Teeth Associated With Nonsyndromic Cleft Lip and Palate in a Group of Colombian Children

, 2020
Objectives: To assess the risk of dental anomaly presentation in permanent teeth in a group of Colombian children with nonsyndromic cleft lip and palate (NSCLP) and to determine the frequency of the anomalies according to the cleft type.
Gómez J.P., Gómez-Arango S., Duque Á.M., Rojas N.E., Garzón-Orjuela N., Otero L., Campos Charris, Flora Maria, Rodríguez-Aguirre S.A., Posso-Moreno S.L., Yezioro-Rubinsky S., Eslava-Schmalbach J.H.   +10 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Tratamiento quirúrgico de insuficiencia velofaringea en pacientes con síndrome velo cardio facial

Anales Médicos, 2023
Introducción: Insuficiencia velofaríngea (IVF) significa que el esfínter velofaríngeo (EVF) no logra sellar la comunicación entre cavidades nasales y tracto vocal situado inferiormente durante el habla.
Pablo-Antonio Ysunza, Matthew Rontal
doaj  

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]

Journal 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

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source

Acute Liver Failure and Hepatic Encephalopathy After Cleft Palate Repair

, 2015
Paracetamol is the most commonly used analgesic after cleft palate repair. It has rarely caused acute hepatic failure at therapeutic or supratherapeutic doses.
TUTAR, ENGİN, DURMUŞ KOCAASLAN, FATMA NİHAL, ÇELEBİLER, ÖZHAN BEKİR   +2 more
core   +1 more source

MicroCT reinvestigation of the only articulated fossil anostomid fish reveals synonymy of Arhinolemur Ameghino, 1898 and Megaleporinus Ramirez et al., 2017

The Anatomical Record, EarlyView.
Abstract Arhinolemur scalabrinii† Ameghino, 1898 was originally described as a strepsirrhine primate (Mammalia) but has been recognized as an anostomid fish since 2012. It remains the only extinct anostomid species known from complete cranial material.
Karen M. Panzeri, Humberto L. Andrelino, Sergio Bogan, José P. O'Gorman, Federico Agnolín, Brian L. Sidlauskas, Nahuel Vega, Agustín G. Martinelli, José L. Birindelli   +8 more
wiley   +1 more source