Results 41 to 50 of about 5,885 (177)
The changes of distance between nipples following correction of women pectus excavatum
Scientific Reports, 2023 The breasts in women pectus excavatum patients frequently appear to be slanting medially along the inclination of the distorted ribs. This study aims to evaluate changes in the distance between the nipples and to find out whether medially slanting ...
Gyeol Yoo +6 more
doaj +1 more source
Animals, 2023 Pectus excavatum is a deformity of the thorax characterized by ventrodorsal narrowing of the sternum bone and costal cartilages, which can lead to compression and cardiopulmonary alterations in dogs, presenting a high prevalence in brachycephalic breeds.
Keylla Helena Nobre Pacífico Pereira +9 more
doaj +1 more source
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Journal of Small Animal Practice, EarlyView.Objectives This case series aims to describe the use of video‐assisted thoracoscopic surgery for the treatment of pectus excavatum. Materials and Methods Six male, intact kittens, with a median age of 3.3 months (range, 2.5 to 4 months) and median weight of 1.75 kg (range, 0.44 to 2 kg), were presented to one of two referral institutions for evaluation
G. Jones +5 more
wiley +1 more source
Annals of Pediatric Cardiology, 2019 Background: Severe pectus excavatum in children may result in cardiorespiratory functional impairment; therefore, we evaluated cardiopulmonary response to exercise before and after the Nuss procedure.
Bibhuti B Das +2 more
doaj +1 more source
Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study
International Journal of Cancer, Volume 159, Issue 7, Page 1707-1714, 1 October 2026.The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren +8 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska +3 more
wiley +1 more source
A 12‐Year‐Old Child With a Sunken Sternum and Progressive Muscle Weakness: A Case Report
Clinical Case Reports, Volume 14, Issue 9, September 2026.ABSTRACT A 12‐year‐old girl with facioscapulohumeral muscular dystrophy and severe pectus excavatum presented with progressive dyspnea and restrictive ventilatory impairment. She underwent successful Nuss repair with uneventful recovery. At 6‐month follow‐up, chest contour and pulmonary function improved, suggesting that surgical correction is feasible
Siman Chen, Chenghao Chen, Qi Zeng
wiley +1 more source
Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome
European Journal of Neurology, Volume 33, Issue 9, September 2026.Clinical variability in CHRND‐related congenital myasthenic syndrome ranges from isolated ocular involvement to severe neonatal‐onset disease with respiratory insufficiency. In a multicenter cohort of nine patients, ocular symptoms represented the core phenotype, while disease severity was influenced by genotype and presumed residual acetylcholine ...
David Muhmann +16 more
wiley +1 more source
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source