Results 51 to 60 of about 3,806 (220)

Anthropometric and musculoskeletal assessment of patients with Marfan syndrome [PDF]

, 2011
CONTEXTUALIZAÇÃO: A Síndrome de Marfan (SM) é uma doença autossômica dominante do tecido conjuntivo que envolve os sistemas ocular, cardiovascular e musculoesquelético, causada por mutações no gene da fibrilina1, gerando flacidez nos ligamentos ...
Brech, Guilherme Carlos, Carvalho, Antonio Carlos de Camargo, Cipriano Júnior, Gérson, Cipriano, Graziella França Bernardelli, Mendes, Cássia C., Peres, Paulo Alberto Tayar   +5 more
core   +6 more sources

Geleophysic Dysplasia Associated With FBN1 Mutation: Clinical Course, Valvular Heart Disease, and Response to Recombinant Human Growth Hormone Therapy

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Geleophysic dysplasia (GD) is a rare genetic condition caused by pathogenic variants in either the ADAMTSL2 or FBN1 gene. We present a patient that combined clinical features consistent with GD, including short stature, delayed bone age, progressive congenital heart disease, and a happy, round face.
Ray Thomas Katbe, Laure Boutsen, Philippe A. Lysy   +2 more
wiley   +1 more source

A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?

Case Reports in Medicine, 2013
Background. Extrarenal pathologies may be associated with renal position and fusion anomalies. According to the literature, our patient is the first horseshoe kidney case that had mega cisterna magna, arachnodactyly, and mild mental retardation.
Çapan Konca, Bahar Caliskan, Mehmet Ali Tas   +2 more
doaj   +1 more source

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]

, 2013
Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, Lopez-Gonzalez, Vanesa, Malfait, Fransiska, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, Symoens, Sofie   +9 more
core   +2 more sources

Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. [PDF]

, 2007
BACKGROUND: A 24-year-old man presented with previously diagnosed Marfan\u27s syndrome. Since the age of 9 years, he had undergone eight cardiovascular procedures to treat rapidly progressive aneurysms, dissection and tortuous vascular disease involving ...
A De Paepe, B Loeys, BL Loeys, CS Ki, Dianna M Milewicz, DM Milewicz, E Disabella, G Collod, H Dietz, H Pannu, Hariyadarshi Pannu, HC Dietz, J Furlong, Joseph S Coselli, K Kainulainen, LC Ades, Scott A LeMaire, SN Hasham, Stacey A Carter, T Mizuguchi, VA McKusick, Van Tran-Fadulu   +21 more
core   +1 more source

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

American Journal of Human Biology, Volume 38, Issue 2, February 2026.
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi, Bruno Telma Destailleur, Giulia Maesta Apelbaum, Carlos Alberto Longui, Cristiane Kochi   +4 more
wiley   +1 more source

22q11.2 deletion syndrome [PDF]

, 2015
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S., Emanuel, Beverly S., Marino, Bruno, McDonald-McGinn, Donna M., Morrow, Bernice E., Philip, Nicole, Scambler, Peter J., Sullivan, Kathleen E., Swillen, Ann, Vermeesch, Joris R., Vorstman, Jacob A. S., Zackai, Elaine H.   +11 more
core   +1 more source

Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations

Haemophilia, Volume 32, Issue 1, Page 185-194, January/February 2026.
ABSTRACT Background In patients with unexplained bleeding and normal haemostatic parameters, heritable disorders of connective tissue (HDCT) may be an underlying cause due to vascular fragility, as observed in Ehlers–Danlos syndrome (EDS) or Marfan syndrome (MS). This study aims to investigate the molecular profile of patients with joint hypermobility (
Perla Bandini, Nina Borràs, Carme Altisent, Judith Sánchez‐Raya, Laura Martin‐Fernandez, Iris Garcia‐Martínez, Natàlia Comes, Lorena Ramírez, Marta Martorell, Carlos Hobeich, Francisco Vidal, Irene Corrales   +11 more
wiley   +1 more source

Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

Case Reports in Medicine, 2011
We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD), and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS) and ...
L. Rozendaal, N. A. Blom, Y. Hilhorst-Hofstee, A. D. J. Ten Harkel   +3 more
doaj   +1 more source

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities

Diagnostics, 2022
Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations.
Ali Al Kaissi, Sergey Ryabykh, Nabil Nassib, Sami Bouchoucha, Lamia Benjemaa, Imen Rejeb, Syrine Hizem, Vladimir Kenis, Franz Grill, Susanne Gerit Kircher, Mohammad Shboul, Farid Ben Chehida   +11 more
doaj   +1 more source