Results 41 to 50 of about 118,515 (256)

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

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Targeted Re-Sequencing of the 2p21 Locus Identifies Non-Syndromic Cleft Lip Only Novel Susceptibility Gene ZFP36L2

Frontiers in Genetics, 2022
rs7590268 present on the 2p21 locus was identified to be associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) in several populations, including the Chinese Han population, indicating that 2p21 was a susceptibility locus for NSCL ...
Mu-Jia Li, Jia-Yu Shi, Qiu-Shuang Zhu, Bing Shi, Zhong-Lin Jia   +4 more
doaj   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Methylene Blue Injection for Pain Reduction at Iliac Crest Donor Sites: A Randomized Trial and Meta-analysis

Plastic and Reconstructive Surgery, Global Open
Background:. Postoperative pain and gait disturbance after iliac bone grafting for alveolar clefts significantly impact patients’ quality of life. This study investigated the effect of methylene blue on postoperative analgesia and conducted a meta ...
Cheng Yao, MD, Yilue Zheng, MD, Haizhou Tong, MD, Di Wu, MD, Weiyi Sun, MD, Shuxiu Chen, MD, Yongqian Wang, MD, Tao Song, MD   +7 more
doaj   +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

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +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

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

Redescription of the Triassic cynodont Cistecynodon parvus and reassessment of its phylogeny

The Anatomical Record, EarlyView.
Abstract Cynodontia is an important subclade of Therapsida that first occurred in the late Permian. It includes extinct subclades which are the non‐mammaliaform cynodonts and Mammaliaformes, with the latter ultimately giving rise to crown mammals. The systematics of non‐mammaliaform cynodonts has been extensively studied and is relatively well‐resolved,
Erin S. Lund, Frederik P. Wolvaardt, Roger M. H. Smith, Jaganmoy Jodder, Julien Benoit   +4 more
wiley   +1 more source