Results 61 to 70 of about 241,816 (288)

Canalicular adenoma of the hard palate: A rare case report

Dental Research Journal, 2021
Canalicular adenoma (CA) is a rare, benign salivary gland tumor that has special tendency to occur in the upper lip. Buccal mucosa is the second most common site.
Milad Khodaei, Masoomeh Amani, Sina Mirinezhad, Sona Rafieyan   +3 more
doaj   +1 more source

The role of negative maternal affective states and infant temperament in early interactions between infants with cleft lip and their mothers [PDF]

, 2012
OBJECTIVES: The study examined the early interaction between mothers and their infants with cleft lip, assessing the role of maternal affective state and expressiveness and differences in infant temperament.
Borgatti, R., Brusati, R., Fedeli, R., Montirosso, R., Morandi, F., Murray, Lynne, Perego, G. G.   +6 more
core   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Adverse social determinats and risk for congenital anomalies [PDF]

, 2014
INTRODUCCIÓN: Diferentes trabajos han relacionando condiciones sociales adversas a nivel familiar y regional con resultados perinatales (mortalidad neonatal, bajo peso y prematuridad); sin embargo, pocos estudiaron el efecto de la pobreza sobre anomalías
Campaña, Hebe, Comas, Belén, Gili, Juan Antonio, Gimenez, Lucas Gabriel, López Camelo, Jorge Santiago, Pawluk, Mariela Soledad, Poletta, Fernando Adrián, Scala, Sandra C., Villalba, María Inés   +8 more
core   +3 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Comparison of Postoperative Complications and Reoperation Rates of Le Fort I Osteotomies Using Demineralized Bone Matrix (DBM) or Autogenous Bone Grafts in Patients with Orofacial Clefts and Craniofacial Malformations

Dentistry Journal
Background: This study aims to evaluate surgical outcomes and compares the prevalence and severity of postoperative complications and reoperations with maxillary osteotomies, focusing on the effectiveness of fixation with demineralized bone matrix (DBM ...
Noémi Sipos, Junnu Leikola, Arja Heliövaara, Eeva Kormi, Juho Suojanen   +4 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  

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

A Novel Voxel-based Technique for 3-Dimensional Transparent Visualization of Lip–Nasal Vasculature

Plastic and Reconstructive Surgery, Global Open
Summary:. Conventional imaging cannot capture the spatial relationship between soft tissue and vasculature in patients with cleft lip. Here, a novel technique integrating micro–computed tomography imaging with voxel-based 3-dimensional reconstruction was
Hongru Zhou, MD, Yu Yao, MD, Congxiao Zhu, MD, Leheng Jiang, MD, Yilue Zheng, MD, Hengyuan Ma, MD, Liya Jiang, MD, Ningbei Yin, MD   +7 more
doaj   +1 more source