Results 71 to 80 of about 9,662 (202)

Pectus excavatum [PDF]

open access: yesAnnals of Cardiothoracic Surgery, 2016
Christopher, Harris   +2 more
  +5 more sources

Using peri‐operative patient‐ and parent‐reported experience and outcome measures to identify paediatric postsurgical recovery trajectories: an observational cohort study

open access: yesAnaesthesia, Volume 81, Issue 7, Page 959-971, July 2026.
Summary Introduction Identifying postoperative pain trajectories and pre‐operative risk factors may support preventative measures and enhance pain management. We aimed to determine the feasibility of gathering peri‐operative data from families of children, describe their recovery trajectories and identify risk factors for high postsurgical pain ...
Samantha Pang   +7 more
wiley   +1 more source

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

open access: yesJournal 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

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij   +5 more
wiley   +1 more source

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

open access: yesClinical 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   +4 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

open access: yesJournal 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

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

Pectus Excavatum

open access: yesAnnals 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   +62 more
openaire   +1 more source

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

open access: yesAmerican 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   +3 more
wiley   +1 more source

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

open access: yesJournal 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   +3 more
doaj   +1 more source

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