Results 41 to 50 of about 5,692 (182)

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Systematic Screening of Communication Outcomes at Age 5 in Children Treated for Nonsyndromic Craniosynostosis

International Journal of Language &Communication Disorders, Volume 61, Issue 5, September/October 2026.
ABSTRACT Background Previous research on communicative outcomes in children treated for nonsyndromic craniosynostosis (NSC) has yielded inconsistent findings, with reported prevalence rates of communicative difficulties varying widely. These discrepancies are attributable to small samples, heterogeneous age groups, and reliance on indirect or non ...
Justin Weinfeld, Christina Havstam, Marizela Kljajić, Clin Psychol, Lars Kölby, Peter Tarnow, Christina Persson   +6 more
wiley   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, Volume 110, Issue 3, Page 379-388, September 2026.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Tahsin Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

Alpha‐Mannosidosis in a 3.5‐Year‐Old Girl: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Alpha‐mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha‐mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha‐
Samuel Bonilla Fornes, Maria Pilar Mendez Perez, Marta Torres Diaz, Maria Eugenia Sanchez Gutierrez, Enrique Galán Gómez   +4 more
wiley   +1 more source

A congenital fibular notch synostosis of the left distal leg: a case report [PDF]

Journal of Research in Applied and Basic Medical Sciences
Background & Aims: Tibiofibular synostosis is an infrequent, limb malformation that is non-syndromic and illustrated by the union of the proximal or distal tibia and union of the proximal or distal tibial and fibular metaphysis and/ or diaphysis ...
Olubunmi Balogun, Oladayo oyedun, Olaniran Morakinyo, Olusegun Ajeleti, Olaleye Olabiyi, Gideon Ojo, Abayomi Olubintan   +6 more
doaj  

Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis

Plastic and Reconstructive Surgery, Global Open, 2019
Background:. Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and mental deficiency. These functional deficiencies may be due to anatomic deformities, which may be caused by different forms of ...
Xiaona Lu, MD, Rajendra Sawh-Martinez, MD, MHS, Antonio Jorge Forte, MD, Robin Wu, BS, Raysa Cabrejo, BS, Alexander Wilson, BS, Derek M. Steinbacher, MD, DMD, Michael Alperovich, MD, Nivaldo Alonso, MD, PhD, John A. Persing, MD   +9 more
doaj   +1 more source

Holoprosencephaly with Multiple Anomalies of the Craniofacial Bones-An Autopsy Report [PDF]

Journal of Clinical and Diagnostic Research, 2013
Holoprosencephaly (HPE), a disorder which results from a failure of cleavage or the incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic ...
E. Aruna, V. Kalyan Chakravarthy, D. Naveen Chandar Rao, D. Ranga Rao   +3 more
doaj   +1 more source

The outcomes of consecutive pregnancies in Australian women with epilepsy

Epileptic Disorders, Volume 28, Issue 4, Page 1211-1220, August 2026.
Abstract Objective To investigate the extent to which seizure control and the occurrence of fetal malformation in an initial pregnancy can serve to anticipate the outcome in the next pregnancy. Methods We analyzed the records of the Raoul Wallenberg Australian Register of Antiepileptic Drugs in Pregnancy for seizure control and fetal malformation data ...
Frank Vajda, Terence J. O'Brien, Janet Graham, Alison Hitchcock, Piero Perucca, Cecilie Lander, Simon Vajda, Mervyn Eadie   +7 more
wiley   +1 more source

Synostosis of the Proximal Tibiofibular Joint

Case Reports in Medicine, 2010
The incidence of synostosis of the proximal tibiofibular joint (TFJ) was assessed among 1029 patients examined for osteoarthritis of the knee in a 4-year period.
Nikolaos K. Sferopoulos
doaj   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source