Results 41 to 50 of about 2,486 (175)

Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study identified novel compound heterozygous mutations in the FANCA gene that underlie fetal limb‐kidney malformations. Through systematic reviews, we explore the relationship between FANC genotypes and malformation phenotypes, emphasizing the importance of considering Fanconi anemia in the prenatal diagnosis of structural abnormalities to ...
Zedong Yang, Yuchen Ma, Ju Wang, Jiangbo Qu, Shihua Cui, Dongyi Yu   +5 more
wiley   +1 more source

Relationship between ear appearance and psychological function among congenital unilateral microtia after autologous cartilage ear reconstruction: a chain mediation model

BMC Psychology
Background Congenital microtia significantly impacts children’s psychological health, yet there has been limited focus on the effect of ear reconstruction surgery on psychological improvements, especially its pathway.
Xinyu Li, Chenlong Li, Tianyu Zhang, Jing Xu, Yaoyao Fu   +4 more
doaj   +1 more source

Surgical Microtia Reconstruction in Hemifacial Microsomia Patients: Current State and Future Directions

Plastic and Reconstructive Surgery, Global Open, 2022
Background:. Hemifacial microsomia (HFM) is one of the most common congenital craniofacial disorders. Among many other features, microtia is present in the large majority of these patients.
Gabriel Bouhadana, MD, Jordan Gornitsky, MD, Eli Saleh, MD, MSc, Daniel E. Borsuk, MD, MBA, FRCSC, Sabrina Cugno, MD, MSc, FRCSC   +4 more
doaj   +1 more source

Clinical application of additive manufacturing in maxillofacial prosthetics: A scoping review

Journal of Prosthodontics, Volume 35, Issue 6, Page 829-840, July 2026.
Abstract Purpose Digital workflows provide significant advances in prosthodontics, especially in terms of accuracy, reduced treatment duration, and quality of life. Moreover, additive manufacturing (AM) is particularly adapted for the fabrication of personalized complex prototypes required for the prosthetic rehabilitation of maxillofacial defects ...
Hélène Magro, Adrien Laran, Adrien Naveau   +2 more
wiley   +1 more source

Electrocardiographic abnormalities in patients with microtia

Scientific Reports
The main objective of this study was to investigate the incidence and characteristics of electrocardiographic abnormalities in patients with microtia, and to explore cardiac maldevelopment associated with microtia.
Yang Yang, Xiaoying Tian, Pengfei Sun, Xiaoli Zhao, Jintian Hu, Bo Pan   +5 more
doaj   +1 more source

A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case

Current Oncology, 2023
Mastocytosis is a heterogeneous group of rare hematological disorders that can occur in infancy. We report a 16-year-old girl who presented with an aggressive form of systemic congenital mastocytosis, associated with a significant global developmental ...
Valérie Larouche, Marie-Frédérique Paré, Pierre-Olivier Grenier, Anna Wieckowska, Eric Gagné, Rachel Laframboise, Nada Jabado, Isabelle De Bie   +7 more
doaj   +1 more source

HRCT evaluation of microtia: A retrospective study

Indian Journal of Radiology and Imaging, 2012
Purpose: To determine external, middle, and inner ear abnormalities on high-resolution computed tomography (HRCT) of temporal bone in patients with microtia and to predict anatomic external and middle ear anomalies as well as the degree of functional ...
Aruna R Patil, Ashu Bhalla, Pankaj Gupta, Deepali Goyal, Sreenivas Vishnubhatla, Anurag Ramavat, Suresh Sharma   +6 more
doaj   +1 more source

Tissue Engineered Human Elastic Cartilage From Primary Auricular Chondrocytes for Ear Reconstruction

Advanced Functional Materials, Volume 36, Issue 36, 4 May 2026.
Despite over three decades of research, no tissue‐engineered solution for auricular reconstruction in microtia patients has reached clinical translation. The key challenge lies in generating functional elastic cartilage ex vivo. Here, we integrate synergistic cell‐biomaterial strategies to engineer auricular grafts with mechanical and histological ...
Philipp Fisch, Sandra Kessler, Simone Ponta, Anna Puiggalí‐Jou, Guoliang Lyu, Killian Flégeau, Anastasiya Martyts, Florian Roth, David Fercher, Filippo M. Rijli, Daniel Simmen, Eva Novoa Olivares, Thomas Linder, Marcy Zenobi‐Wong   +13 more
wiley   +1 more source

Maternal Fish Intake in the Year Prior to Conception and Birth Defects, National Birth Defects Prevention Study, 1997–2011

Birth Defects Research, Volume 118, Issue 5, May 2026.
ABSTRACT Background Epidemiologic data on the association between maternal fish intake and birth defects are sparse. Our objective was to assess associations between maternal fish intake and 52 different birth defects, most of which have not been assessed previously.
Dorothy Kim Waller, Zeyu Miao, Renata H. Benjamin, Richard Finnell, Nithya Lakshmi Mohan Dass, Eirini Nestoridi, Marcia C. de Oliveira Otto, Julie Peterson, Tunu Ramadhani, Mark A. Canfield, the National Birth Defects Prevention Study   +10 more
wiley   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source