Results 71 to 80 of about 5,033 (231)

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

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +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

Pectus Excavatum and Pectus Carinatum in dogs [PDF]

, 2020
Background: Deformities of the anterior thoracic wall are called pectus: pectus excavatum and pectus carinatum. Pectus excavatum is characterised by dorsal deviation of the caudal region of the sternum while pectus carinatum consists of protrusion of the
Baia, Giovanna Oliveira, de Almeida, Arleana do Bom Parto Ferreira, Jaworski, Lorena Tavares de Brito Nery, Néspoli, Pedro Eduardo Brandini, Prass, Daniela, Rezende, Bianca Costa, Sousa, Valéria Régia Franco, Souza, Claudia Luvian   +7 more
core   +1 more source

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, Volume 200, Issue 3, Page 661-672, March 2026.
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

Noonan syndrome with somnambulism: A rare case report

Industrial Psychiatry Journal, 2020
Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000–2500 live births. Characteristic features of the condition include distinctive myopathic facial features, hypertelorism, short and broad nose, webbed ...
Samiksha Sahu, Suprakash Chaudhury, Daniel Saldanha   +2 more
doaj   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 285-295, February 2026.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Nuss procedure for combined pectus excavatum and carinatum in a patient with a history of congenital esophageal atresia repair surgery

Journal of Cardiothoracic Surgery, 2022
Cardiothoracic surgery usually causes tissue adhesion on the operation site which increases the risk of complications in the subsequent thoracic surgery including Nuss procedure.
Gyeol Yoo, Jin Yong Jeong
doaj   +1 more source

Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy [PDF]

, 2016
Leukoencephalopathies are a group of white matter disorders related to abnormal formation, maintenance, and turnover of myelin in the central nervous system.
Anikster, Y, Baze, WB, Bitterman-Deutsch, O, Chasnyk, N, Chopra, AK, Falik Zaccai, TC, Fitts, EC, Gahl, WA, Geiger, D, Gross, B, Kalfon, L, Keren, Z, Kirtley, ML, Kleta, R, Kornitzer, D, Mullikin, JC, Peterson, JW, Pinchuk, IV, Samra, N, Samson, AO, Savitzki, D, Shoval, Y, Straussberg, R, Teer, JK, Vilboux, T, Wakamiya, M, Zivony-Elboum, Y   +26 more
core   +1 more source

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source