Results 121 to 130 of about 20,808 (273)

Repair of pectus excavatum in a toddler with Prune Belly syndrome and left bronchus compression

Journal of Pediatric Surgery Case Reports, 2017
A 2-year-old boy with prune-belly syndrome and severe pectus excavatum experienced recurrent pulmonary infections. A CT scan of the chest demonstrated compression of the left mainstem bronchus and leftward shift of the heart.
Shawn T. Liechty, Henry J. Baskin, Rebecka L. Meyers, Michael D. Rollins   +3 more
doaj   +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

Anthropometric and musculoskeletal assessment of patients with Marfan syndrome [PDF]

, 2011
CONTEXTUALIZAÇÃO: A Síndrome de Marfan (SM) é uma doença autossômica dominante do tecido conjuntivo que envolve os sistemas ocular, cardiovascular e musculoesquelético, causada por mutações no gene da fibrilina1, gerando flacidez nos ligamentos ...
Brech, Guilherme Carlos, Carvalho, Antonio Carlos de Camargo, Cipriano Júnior, Gérson, Cipriano, Graziella França Bernardelli, Mendes, Cássia C., Peres, Paulo Alberto Tayar   +5 more
core   +6 more sources

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients

Pediatric Investigation, Volume 9, Issue 3, Page 293-299, September 2025.
NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li, Ming Cheng, Min Liu, Wenjing Li, Yuchuan Li, Bingyan Cao, Liya Wei, Yuan Ding, Xi Meng, Lele Li, Chunxiu Gong   +10 more
wiley   +1 more source

Emergent cardiopulmonary bypass during pectus excavatum repair

Annals of Cardiac Anaesthesia, 2013
Pectus excavatum is a chest wall deformity that produces significant cardiopulmonary disability and is typically seen in younger patients. Minimally invasive repair of pectus excavatum or Nuss procedure has become a widely accepted technique for adult ...
Ryan Craner, Ricardo Weis, Harish Ramakrishna   +2 more
doaj   +1 more source

Connective tissue anomalies in patients with spontaneous cervical artery dissection. [PDF]

, 2014
OBJECTIVE: To investigate the prevalence of connective tissue abnormalities in patients with spontaneous cervical artery dissections (sCeAD). METHODS: We systematically assessed clinically detectable signs of connective tissue aberration in a series of ...
A. Giossi, A. Morotti, A. Padovani, A. Pezzini, E. Del Zotto, G. Meneghetti, G. Tomelleri, I. Volonghi, L. Poli, M. Carletti, M. Chinaglia, M. Colombi, M. Gamba, M. Morra, M. Ritelli, N. Checcarelli, N. Chiarelli, P. Bovi, P. Costa, V. De Giuli   +19 more
core   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, Volume 108, Issue 3, Page 334-346, September 2025.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

The Nuss procedure for pectus excavatum: An effective and safe approach using bilateral thoracoscopy and a selective approach to use multiple bars in 296 adolescent and adult patients

PLoS ONE, 2020
The Nuss procedure is a minimally invasive repair used to treat pectus excavatum. A bilateral thoracoscopy-assisted approach has been reported as a safe method for Nuss repair.
Ponomar'ov Lo, I. Tzeng, Min-Shiau Hsieh, Mei-Chen Yang, Bo-Chun Wei, Yeung-Leung Cheng   +5 more
semanticscholar   +1 more source

Short Stature and Developmental Delay Associated With a Novel Frame‐Shift Mutation in ZNF292: Case Report and Literature Review

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Pathogenic mutations in the ZNF292 gene are a significant genetic cause of Intellectual Developmental Disorder (IDD) in individuals, manifesting with a spectrum of clinical features including mild to severe intellectual impairment, speech delay, and co‐occurring autism spectrum disorder (ASD).
Li Dongxue, Yao Ruen, Yu Ying, Chen Liting, Wang Jie, Lu Chunjiao, Li Wei, Chen Rikun, Li Cuiyun   +8 more
wiley   +1 more source

Tratamiento del Pectus excavatum con cirugía minimamente invasiva con la técnica de Donald Nuss

Revista Médica Herediana, 2011
El Pectus excavatum, es una malformación congénita de la pared anterior del tórax, caracterizada por una depresión del esternón. Objetivo: Evaluar los resultados del tratamiento quirúrgico en pacientes con pectus excavatum, utilizando la técnica de Nuss.
Mario Lopez-Carranza, Oswaldo Silvia-Rodríguez, Jorge Achata-Arenas, Victor Mendizabal-Quiñonez, Manuel Calvay-Salinas, Herbert Mostacero-Plasencia, Felipe Sandoval-Espinoza, Ricardo Zavaleta-Alfaro   +7 more
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