Results 81 to 90 of about 3,806 (220)

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Seizures as an Atypical Feature of Beal’s Syndrome

Sultan Qaboos University Medical Journal, 2016
Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23.
Nazreen B. K. Jaman, Abeer Al-Sayegh
doaj   +1 more source

Physiotherapy Intervention for Joint Hypermobility in Three Cases with Heritable Connective Tissue Disorders [PDF]

, 2010
peer reviewedIntroduction: In Joint Hypermobility Syndromes, chronic pain is the most disabling symptom. Its origin can be multiple (i.e. subluxations, sprains, pathologies of tendons, ligaments, peripheral nerves, multiple operations).
Crielaard, Jean-Michel, Croisier, Jean-Louis, Foidart-Dessalle, Marguerite, Forthomme, Bénédicte, Kaux, Jean-François, Toussaint, Geoffrey   +5 more
core   +1 more source

Loeys‐Dietz Syndrome and Asthma: Pathophysiological Insights and Clinical Dilemmas

Respirology Case Reports, Volume 13, Issue 8, August 2025.
We present a case of acute severe asthma in a young adult with Loeys‐Dietz syndrome, complicated by cardiovascular comorbidities. This case highlights the high prevalence and severity of asthma in LDS, the risks of delayed treatment and the importance of balancing bronchodilator therapy against vascular complications.
Ella Brockwell‐Mole, John D. Blakey, Vidya V. Navaratnam   +2 more
wiley   +1 more source

Giant Aortic Root Aneurysm in a Young Patient With Marfan Syndrome: A Clinical Image

Clinical Case Reports, Volume 13, Issue 7, July 2025.
ABSTRACT Marfan syndrome predisposes individuals to severe cardiovascular complications, including aortic root aneurysms, with a high rupture risk. Timely diagnosis through advanced imaging and surgical intervention, such as the Bentall procedure, is essential.
Syed Mohsin Raza Bukhari, Muhammad Shahzad Raza, Muhammad Ans, Umema Shanza, Jalil Abbas, Kamran Yousuf, Mohsin Raza   +6 more
wiley   +1 more source

Клінічний випадок синдрому Марфана з тяжким ураженням аорти [PDF]

, 2011
В статье представлен клинический случай синдрома Марфана с тяжелым поражением сердечно-сосудистой системы и опорно$двигательного аппарата, осложненный расслаивающей аневризмой аорты и симптоматической артериальной гипертензией.
Каменська, Е.П., Карнаухова, Н.О., Крайз, І.Г., Шамова, Т.О., Шатрава, І.М., Яблучанський, М.І.   +5 more
core  

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II

Egyptian Journal of Medical Human Genetics, 2017
We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I). The patient had intrauterine growth
Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +2 more
doaj   +1 more source

The roles of the exoribonucleases DIS3L2 and XRN1 in disease [PDF]

, 2016
RNA degradation is a vital post-transcriptional process which ensures that transcripts are maintained at the correct level within the cell. DIS3L2 and XRN1 are conserved exoribonucleases which are critical for the degradation of cytoplasmic RNAs ...
Jones, Christopher I, Newbury, Sarah F, Pashler, Amy L, Towler, Ben   +3 more
core   +1 more source

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Marfan syndrome (MFS) is a well‐characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single‐nucleotide variants (SNVs) in the FBN1 gene (MIM#134797) located on chromosome 15q21.1.
C. Racine, P. Callier, R. Touraine, A. Vitobello, N. Hanna, P. Arnaud, G. Jondeau, C. Boileau, C. Thauvin‐Robinet, I. Creveaux, V. Gatinois, M. Willems, L. Faivre   +12 more
wiley   +1 more source