Results 51 to 60 of about 2,486 (175)

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Johnson-McMillin microtia syndrome: New additional family

Journal of Family Medicine and Primary Care, 2014
Microtia is a congenital anomaly that is found with different prevalence among various populations. The exact etiology of ear anomalies is still unknown.
Nagwa Abdel-Meguid, Ola Hosny Gebril, Ehab Ragaa Abdelraouf, Mohammed Akmal Shafie, Mohammed Bahgat   +4 more
doaj   +1 more source

The Bonebridge Active Bone Conduction Hearing Implant: Safety, Effectiveness and Outcomes Based on 355 Patients

Clinical Otolaryngology, Volume 51, Issue 2, Page 255-261, March 2026.
ABSTRACT Objectives This study evaluates the safety and efficacy of the Bonebridge BCI 601 and 602 bone conduction implants in our largest cohort to date of 355 patients. The patients had a wide age range and exhibited conductive, mixed, or single‐sided deafness (SSD). Design All patients underwent Bonebridge implantation.
Piotr Henryk Skarzynski, Katarzyna Beata Cywka, Emilia Anna Czaplicka, Henryk Skarzynski   +3 more
wiley   +1 more source

Three‐Stage Prelaminated Radial Forearm Flap for Total Auricular Reconstruction Following Scalp Avulsion Injury

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Loss of mastoid skin and temporoparietal fascia after complete scalp avulsion precludes conventional ear reconstruction. We report a total auricular reconstruction using a remote, prelaminated radial‐forearm flap. A 42‐year‐old woman with prior scalp avulsion and right ear amputation underwent (1) 200‐mL forearm expansion, (2) autogenous ...
Bo Liang, Yan Xue, Wanqiao Zhang, Junhong Lan   +3 more
wiley   +1 more source

Functional and Aesthetic Reconstruction for Microtia Using the Combination of Superficial Circumflex Iliac Artery Perforator Superthin Flap Transfer and Skin Grafting

Plastic and Reconstructive Surgery, Global Open, 2019
Summary:. Microtia with congenital aural atresia is challenging to achieve aesthetically and functionally good results. We herein present a case where a vascularized superthin superficial circumflex iliac artery perforator (SCIP) flap was used for ...
Ryo Karakawa, MD, Takuya Iida, MD, PhD, Hidehiko Yoshimatsu, MD, Koji Kanayama, MD, PhD, Tatsuya Yamasoba, MD, PhD   +4 more
doaj   +1 more source

The Impact of Chlamydia Treatment During Pregnancy on Birth Defects in New York State

Birth Defects Research, Volume 118, Issue 1, January 2026.
ABSTRACT Background Chlamydia trachomatis (CT) diagnoses are highest among females of reproductive age. Yet, little is known about adverse infant outcomes associated with treatment for CT infections during pregnancy, including birth defects. Methods Using de‐identified matched data from the New York State (NYS) Sexually Transmitted Infection ...
Elizabeth M. Boos, Meredith Howley, Tomoko Udo, Alexa Freedman, Wilson Miranda, Charles Gonzalez, Rachel Hart‐Malloy   +6 more
wiley   +1 more source

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus, Abdullah Canbal, Seda Guneysu, Erkan Gokce, Pakize Duzgun, İbrahim Barıs   +5 more
wiley   +1 more source

Diagnostic Yield and Genotype–Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain

European Journal of Neurology, Volume 33, Issue 1, January 2026.
Clinical exome sequencing (CES) was performed on 108 Spanish patients with suspected hereditary spastic paraparesis (HSP), using a virtual 129‐gene panel and HPO‐based variant filtering. A molecular diagnosis was achieved in 53% of cases, with 21 causative genes identified (8 novel variants), SPAST (AD) and SPG7 (AR) being the most frequent genetic ...
Lidón Carretero‐Vilarroig, Rafael Sivera, Raquel Baviera, Carmen Espinós, Nuria Muelas, Juan Francisco Vazquez‐Costa, Elena Aller, Luis Bataller, Teresa Jaijo   +8 more
wiley   +1 more source

Genotype-phenotype associations in microtia: a systematic review

Orphanet Journal of Rare Diseases
Background Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This
Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri, Gunadi   +6 more
doaj   +1 more source

Goldenhar Syndrome - A Case Report with Review of Literature

Current Research in Dental Sciences
Goldenhar Syndrome (GS) is a rare congenital disorder arising from the defects in first and second branchial arches. It is characterized by a wide spectrum of symptoms that vary in severity and include facial abnormalities, microtia or anotia, vertebral ...
Pavani Muddepalli, Sridhar T, Dhanvanth M   +2 more
doaj   +1 more source