Results 71 to 80 of about 117,358 (311)

Incidentally detected bifid cardiac apex in a patient with acute myocardial infarction: A case presentation and brief literature review

Türk Kardiyoloji Derneği Arşivi, 2018
A bifid cardiac apex is a rare congenital cardiac anomaly in humans and is usually associated with other congenital heart diseases. Presently described is a case of an incidentally detected bifid cardiac apex in a patient presenting with inferior ST ...
Ali Hosseinsabet, Alireza Amirzadegan
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Ocular and brain imaging findings in Peters’ anomaly: A case report and literature review

Radiology Case Reports, 2020
Peters’ anomaly is a rare congenital eye condition characterized by anterior segment dysgenesis and commonly presents as unilateral or bilateral corneal opacity in the early neonatal period.
Amjad Samara, MD, Rami W. Eldaya, MD, MBA   +1 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Togetherness of Ebstein anomaly and giant hairy nevus in a neonate: first case in the literature

The Turkish Journal of Pediatrics, 2018
Ebstein anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced through the apex of the right ventricle. Giant congenital melanocytic nevi originate from melanocytes.
Ferda Özlü, Mahmut Tülüce, Mehmet Satar, Nazan Özbarlas, Banu Kozanoğlu, Aydın Yücel   +5 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

An uncommon congenital anomaly of the ribs

, 2016
Intrathoracic rib is an extremely rare congenital anomaly of the ribs. Here, we present the case of a 10-year-old boy with asthma who, on routine evaluation, was found to have this ...
Arjun Padmanabhan, Mohamed Puthiyaveettil Zunimol   +1 more
core   +1 more source

Congenital absence of the right coronary artery with acute myocardial infarction: report of two cases and review of the literature

Journal of International Medical Research, 2020
Congenital absence of the right coronary artery (RCA) is a rare coronary anomaly. Few cases of this condition have been reported. Congenital absence of the RCA is considered as a benign anomaly.
Zhongbo Chen, Jinhua Yan, Xiaorong Han, Binay Kumar Adhikari, Jin Zhang, Ying Zhang, Jian Sun, Yonggang Wang   +7 more
doaj   +1 more source