Results 61 to 70 of about 3,013 (187)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Determining factors associated with chest wall thickness for emergency needle decompression in Thai population

Hong Kong Journal of Emergency Medicine, Volume 32, Issue 5, October 2025.
Abstract Objectives Needle decompression is a lifesaving procedure; however, the success rate may be limited. Chest wall thickness (CWT) is an important factor related to the success rate. This study aimed to identify the optimal anatomical site for needle decompression by comparing CWT and predicted risk of vital organ injury across three locations. A
Chatinan Yusuk, Tanawin Sakarin, Siriwimon Tantarattanapong, Panjai Choochuen   +3 more
wiley   +1 more source

Nuss procedure for combined pectus excavatum and carinatum in a patient with a history of congenital esophageal atresia repair surgery

Journal of Cardiothoracic Surgery, 2022
Cardiothoracic surgery usually causes tissue adhesion on the operation site which increases the risk of complications in the subsequent thoracic surgery including Nuss procedure.
Gyeol Yoo, Jin Yong Jeong
doaj   +1 more source

Surgical approach to treatment of asymmetric pectus excavatum in children

Хірургія дитячого віку, 2022
Objective. To improve the outcomes in patients with asymmetric pectus excavatum (APE) by developing and implementing our own differentiated modified Nuss procedure to correct different variants of this deformity; to analyse the treatment outcomes ...
V.R. Zaremba, O.A. Danylov
doaj   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of inherited metabolic diseases (IMD) characterized by defects in the synthesis and modification of glycoproteins and glycolipids. One of these disorders is ATP6AP1‐CDG, a rare X‐linked disease with approximately 30 cases reported so far. Symptoms associated with ATP6AP1‐CDG
Amirreza Jabbaripour Sarmadian, Babak Abdinia, Kia Seyed Toutounchi, Mohammad Saberi, Shabnam Eskandarzadeh   +4 more
wiley   +1 more source

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome

Clinical Genetics, Volume 108, Issue 2, Page 134-145, August 2025.
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest, Annelies E. van der Hulst, Gerard Pals, Lidiia Zhytnik, Lillian Lai, Caroline Jacquemart, Lindsay Mills, Michiel Houben, Petr Jira, Bert L. Lunshof, Jessica Warnink‐Kavelaars, Vivian de Waard, Leonie A. Menke   +12 more
wiley   +1 more source

Minimally invasive repair of the severe pectus excavatum in an infant

Journal of Pediatric Surgery Case Reports, 2019
Pectus excavatum is the most common congenital chest wall abnormality. Nuss et al., in 1998 described minimally invasive repair of pectus excavatum and this procedure is now the procedure of choice in many institutions for the surgical repair of pectus ...
Muharrem Özkaya, Mehmet Bilgin
doaj   +1 more source