Results 61 to 70 of about 5,806 (173)

Early‐Onset Mucocutaneous Findings and Isolated Progressive Thrombocytopenia in a Child With a DKC1 A353V Variant

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Dyskeratosis congenita (DC) is a rare telomere biology disorder characterized by mucocutaneous abnormalities and progressive bone marrow failure. We report a 10‐year‐old boy with a hemizygous DKC1 c.1058C > T (p.Ala353Val) variant who presented with unusually early mucocutaneous findings, including oral leukoplakia at 2 years of age, followed ...
Harun Kasapoğlu, Aslı Turgutoğlu Yılmaz, Berkin Berk Akbeyaz, Neslihan Çalışkan, Yılmaz Ay   +4 more
wiley   +1 more source

Pectus excavatum [PDF]

Annals of Cardiothoracic Surgery, 2016
Christopher, Harris, Beth, Croce, Christopher, Cao   +2 more
openaire   +3 more sources

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

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Vacuum bell therapy for pectus excavatum: a retrospective study

BMC Pediatrics
Background Pectus excavatum, the most common chest wall deformity, is frequently treated with Nuss procedure. Here we will describe non-invasive procedure and analyze the variables associated vacuum bell therapy for patients with pectus excavatum ...
Weixuan Lei, Mengqi Shao, Yan Hu, Jieming Cao, Wei Han, Ruoyao Wang, Quanming Fei, Jian Zou, Junqi Yi, Zheyu Cheng, Wenliang Liu   +10 more
doaj   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Pectus Excavatum

Annals of thoracic surgery, 2023
Background: Pectus excavatum is the most common congenital anterior chest wall deformity. Currently, a wide variety of diagnostic protocols and criteria for corrective surgery are being used. Their use is predominantly based on local preferences and experience. To date, no guideline is available, introducing heterogeneity of care as observed in current
Janssen, Nicky, Daemen, Jean H. T., van Polen, Elise J., Coorens, Nadine A., Jansen, Yanina J. L., Franssen, Aimée J. P. M., Hulsewé, Karel W. E., Vissers, Yvonne L. J., Haecker, Frank-Martin, Milanez de Campos, Jose R., de Loos, Erik R., Abramson, Horacio A., Aguiar, Wolfgang W. S., Alder, Adam C., Ambriz-González, Gabriela, Andrews, James, Backhus, Leah M., de Beer, Sjoerd A., de Campos, José Ribas M., Chu, Chih-Chun, Currie, Bruce G., Darlong, Laleng M., Dhannapuneni, Ramana, Doody, Daniel P., Elmo, Gastón, Emil, Sherif, Villacampa, Ricardo Escartín, Ferrari, Paolo A., Fortmann, Caroline, Goretsky, Michael J., Hebra, Andre, van der Heide, Stefan M., Hendriks, Jeroen M. H., Hensens, Ab G., Heyman, Stijn R. G., van Huijstee, Pieter J., Infante, Maurizio V., Jaroszewski, Dawn E., Kelly, Robert E., Marres, Geertruid M. H., von Meyenfeldt, Erik M., Omanik, Pavol, Oomen, Matthijs W., Peredo, Alfredo W., Perez-Alonso, David, Petersen, Claus, Pilegaard, Hans K., Prada-Arias, Marcos, Rebhandl, Winfried, Zarama, Ricardo M., Ryan, Daniel P., de Ryck, Frederic, Schewitz, Ivan, Tedde, Miguel L., Thomas, Mathew, de la Torre, Carlos A., van Veer, Hans G. L., Vervloessem, Dirk, van de Wauwer, Caroline, Wimmer, Cosmas D., Yildiran, Huseyin, Yuksel, Mustafa, Zijp, Gerda W.   +62 more
openaire   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Repair of Recurrent Pectus Excavatum with a Huge Chest Wall Defect in a Patient with a Previous Ravitch and Pectus Bar Repair: A Case Report

Journal of Chest Surgery, 2022
Recurrent pectus excavatum (PE) after a Ravitch operation is not uncommon. Extensive costal cartilage resection from the previous Ravitch procedure can lead to an irregular, unstable chest wall depressions with a varying degree of deformity.
Gongmin Rim, Hyung Joo Park
doaj   +1 more source