Results 61 to 70 of about 3,040 (188)

Accidental Diagnosis of Type VII Osteogenesis Imperfecta in an Infant Presenting With Pneumonia and Rickets‐Like Rib Fractures: A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT This case report describes a newborn diagnosed with Type VII Osteogenesis Imperfecta (OI) following an incidental finding of rib fractures during evaluation for pneumonia. The patient presented with multiple fractures, including deformities and callus formations in the ribs and extremities, initially raising concerns for differential diagnoses
Samaneh Parviz, Dariush Hooshyar
wiley   +1 more source

Assessment of 3D scanners for modeling Pectus Carinatum corrective bar [PDF]

, 2013
Pectus Carinatum (PC) is a chest deformity consisting on the anterior protrusion of the sternum and adjacent costal cartilages. Non-operative corrections, such as the orthotic compression brace, require previous information of the patient chest surface ...
Fonseca, Jaime C., Pinho, A.C.M., Correia-Pinto, Jorge, Pinho, A. C. M., Moreira, António Herculano Jesus, Rodrigues, Pedro L., Fonseca, João Luís Gomes, Pinho, A. C. Marques, Rodrigues, Nuno Miguel Feixa, Moreira, António H. J., F. Rodrigues, Nuno, Vilaça, João L., Fonseca, João Gomes, Rodrigues, Pedro Miguel Loureiro   +13 more
core   +1 more source

Repair of pectus deformities : Experience and outcome in 317 cases

Annals of Saudi Medicine, 2006
Background: The most common congenital chest wall deformities are pectus excavatum and pectus carinatum. Various techniques have been described for correction of pectus deformities.
Genc Onur, Gurkok Sedat, Gozubuyuk Alper, Dakak Mehmet, Caylak Hasan, Yucel Orhan   +5 more
doaj  

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

Minimally Invasive Repair of Pectus Carinatum

, 2018
Background. The second most common deformity of the anterior chest wall, pectus carinatum, is a diverse deformity that has been largely managed using open techniques. This study reviews clinical experience with a newly designed bar for minimally invasive
LAÇİN, TUNÇ, ERMERAK, NEZİH ONUR
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

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

Treatment of Pectus Carinatum via Telemedicine

, 2020
Pectus carinatum is a chest wall condition characterized by abnormal protrusion of the sternum and costal cartilages outward. Surgery had been the gold standard for treatment for a long time, but a non-operative approach to treatment with the use of a ...
Brausch, Kristin
core   +1 more source

Minimally Invasive Repair of Pectus Carinatum in Patients Unsuited to Bracing Therapy [PDF]

, 2017
Background : We used an Abramson technique for minimally invasive repair of pectus carinatum in patients who preferred surgery to brace therapy, had been unsuccessfully treated via brace therapy, or were unsuitable for brace therapy because of a rigid ...
서지원, 이근동, 이성수
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