Results 81 to 90 of about 15,587 (254)

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

Objective effect manifestation of pectus excavatum on load-stressed pulmonary function testing: a case report

Journal of Medical Case Reports, 2011
Introduction Pectus excavatum is the most common congenital deformity of the anterior chest wall that, under certain conditions, may pose functional problems due to cardiopulmonary compromise and exercise intolerance.
Chan Jason, Huang Wei
doaj   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

EVALUATION OF IDIOPATHIC SCOLIOSIS IN SUBTYPES OF PECTUS EXCAVATUM AND CARINATUM [PDF]

Acta Ortopédica Brasileira
Objective: Evaluation of epidemiological data on Idiopathic Scoliosis in patients with different pectus subtypes. Methods: A medical record analysis of 418 patients with pectus, associated with idiopathic scoliosis above 10°, with research on: subtypes ...
Davi de Podesta Haje, Guilherme Antunes Barriviera, Marcos Vinícius Santana Silva, Caroline Kaori Maebayashi   +3 more
doaj   +1 more source

Enhanced Functional and Surgical Outcomes With 3D Printing in Orthopedic Oncology: A Comparative Meta‐Analysis Against Conventional Techniques

Journal of Surgical Oncology, Volume 132, Issue 6, Page 1131-1142, November 2025.
ABSTRACT Introduction Three‐dimensional printing (3DP) technology has increasingly gained attention in orthopedic oncology, where complex tumor resections and reconstructions demand high precision. 3DP enables the creation of patient‐specific models and prostheses, which can improve postoperative quality of life for patients while assisting surgeons in
Peter Joseph Mounsef, Benjamin Blackman, Ojasvi Sharma, Ahmed Aoude, Anthony Bozzo   +4 more
wiley   +1 more source

PECTUS CARINATUM DEVELOPMENT AFTER THE NUSS PROCEDURE: A CASE REPORT

Turkish Medical Student Journal
Development of pectus carinatum is a very rare complication of the Nuss procedure. This complication may lead to early bar removal, which hinders sternal protrusion but induces the recurrence of pectus excavatum.
Zafer Alparslan, Mustafa Yüksel
doaj   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Application of preshaping technique in Wung procedure of severe asymmetric pectus excavatum [PDF]

, 2022
Wenlin Wang, Weiguang Long, Yang Liu, Bin Cai, Juan Luo   +4 more
openalex   +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