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Physiological Reports, Volume 14, Issue 13, July 2026.Abstract This scoping review describes cardiopulmonary fitness in non‐operated patients with pectus excavatum and maps the reporting of hemoglobin and arterial oxygen content during exercise. Four databases (PubMed, ScienceDirect, CINAHL, and SPORTDiscus) were searched from inception to February 15th, 2025.
Maxime Lokietek +5 more
wiley +1 more source
Diagnostics, 2023 Background: The severity of pectus excavatum is classified by the Haller Index (HI) and/or Correction Index (CI). These indices measure only the depth of the defect and, therefore, impede a precise estimation of the actual cardiopulmonary impairment.
Tariq Abu-Tair +5 more
doaj +1 more source
American 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
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 +4 more
wiley +1 more source
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 +6 more
wiley +1 more source
PECTUS CARINATUM DEVELOPMENT AFTER THE NUSS PROCEDURE: A CASE REPORT
Turkish Medical Student JournalDevelopment 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
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
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 +3 more
wiley +1 more source
EVALUATION OF IDIOPATHIC SCOLIOSIS IN SUBTYPES OF PECTUS EXCAVATUM AND CARINATUM [PDF]
Acta Ortopédica BrasileiraObjective: 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 +3 more
doaj +1 more source