Results 71 to 80 of about 11,217 (226)

“Superior Pectus Carinatum” (Currarino-Silverman Syndrome) in a 66 years-old woman: a case report

Digital Diagnostics, 2022
The premature fusion of some of the sternal ossification centers and the obliteration of the manubrio-sternal joint caused a rare deformity called Currarino-Silverman Syndrome. These patients present an abnormally short sternum with forward angulation at
Domenico Mannatrizio, Giacomo Fascia, G. Guglielmi   +2 more
semanticscholar   +1 more source

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type [PDF]

, 2017
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test.
Beighton, Beighton, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Clarkson, De Paepe, De Wandele, Gharbiya, Grahame, Grahame, Greenacre, Hakim, Kirk, Lebart, Loeys, Mayer, Palmer, Remvig, Remvig, Ritelli, Rombaut, Rombaut, Tinkle, Voermans, Voermans, Voermans, Zarate   +34 more
core   +1 more source

Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy

Journal of Pediatric Surgery Case Reports, 2021
Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can ...
Nelimar Cruz Centeno, Victor N. Ortiz Justiniano   +1 more
doaj   +1 more source

Assessment of copy number variations in 120 patients with Poland syndrome [PDF]

, 2016
Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies.
Aldamaria Puliti, Anwar Baban, Carlotta Maria Vaccari, Elisa Tassano, Filippo Senes, Ilaria Musante, Margherita Lerone, Maria Francesca Bedeschi, Maria Grazia Calevo, Maria Teresa Divizia, Maria Victoria Romanini, Massimo Acquaviva, Maura Valle, Michele Torre, Nunzio Catena, Roberto Ravazzolo, Simone Bossi, Stefania Gimelli   +17 more
core   +2 more sources

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

Bilateral congenital chest wall defects associated with microtia: First case report

Journal of Pediatric Surgery Case Reports, 2022
Congenital chest wall defects are uncommon and present commonly at birth or later in infancy. The most common types are pectus excavatum, pectus carinatum, and sternal clefts. We present the first case report of multiple congenital anomalies that include
Ayman Alkhamisy, Atya Gb, Ghada Alyousef, Fatema Alzahraa Alseddiki, Mohamad Morjan   +4 more
doaj   +1 more source

Elevation of serum lactate dehydrogenase in patients with pectus excavatum [PDF]

, 2014
INTRODUCTION: Pectus excavatum is the most common congenital chest wall deformity and the depression of the anterior chest wall, which compresses the internal organs. The aim of the present study is to investigate the effects of pectus excavatum on blood
Chi Kyeong Kim, Hyun Jung Kim, Hyung Joo Park, Jae Jun Kim, Jae Kil Park, Seok Whan Moon, Young Kyu Moon   +6 more
core   +2 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Quantitative geometric analysis of rib, costal cartilage and sternum from childhood to teenagehood [PDF]

, 2013
Better understanding of the effects of growth on children’s bones and cartilage is necessary for clinical and biomechanical purposes. The aim of this study is to define the 3D geometry of children’s rib cages: including sternum, ribs and costal cartilage.
BADINA, Alina, LAMBOT, Karene, LAPORTE, Sébastien, MITTON, David, SANDOZ, Baptiste, SKALLI, Wafa   +5 more
core   +4 more sources

Abordagem de pectus carinatum na Atenção Primária e seu impacto na saúde emocional do paciente

Revista Brasileira de Medicina de Família e Comunidade, 2022
Introdução: O pectus carinatum (PC) é uma deformidade incomum da parede torácica, que geralmente surge na infância e se acentua na adolescência. Essa malformação pode levar a distúrbios estéticos e de autoestima, além de problemas respiratórios, que se ...
Luiza Carla Migliavacca Pian, Laura Vitória Xavier, Thais Caroline Fin, Juliana Frighetto, Hellany Karolliny Pinho Ribeiro   +4 more
semanticscholar   +1 more source