Results 101 to 110 of about 24,851 (250)
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
Clinical Genetics, Volume 109, Issue 1, Page 176-180, January 2026.A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis +14 more
wiley +1 more source
Fibroblast growth factor signaling in skeletal development and disease [PDF]
, 2015 Fibroblast growth factor (FGF) signaling pathways are essential regulators of vertebrate skeletal development. FGF signaling regulates development of the limb bud and formation of the mesenchymal condensation and has key roles in regulating ...
Marie, Pierre J, Ornitz, David M
core +2 more sources
Journal of Anatomy, Volume 248, Issue 1, Page 40-52, January 2026.This quantitative study identified distinct cranial vault morphologies in Apert and Crouzon syndromes, with a larger anterior fossa in Apert and high variability in Crouzon, reflecting different patterns of suture closure. Abstract Craniosynostoses are congenital conditions characterized by premature suture fusions, altering skull growth and ...
Ombline Delassus +9 more
wiley +1 more source
Case Reports in Medicine, 2009 Purpose. We describe a case of 3-year-old girl with rhombencephalosynapsis, a rare cerebellar anomaly. Patient. A 3-year-old girl was admitted to our hospital due to congenital torticollis and asymmetry of face, skull and trunk.
Virve Koljonen +3 more
doaj +1 more source
Anesthetic management of craniosynostosis repair in patient with Apert syndrome
Saudi Journal of Anaesthesia, 2014 Apert syndrome is an autosomal dominant disease characterized by craniosynostosis, midface hypoplasia and syndactyly. In general, patients present in early childhood for craniofacial reconstruction surgery.
Niraj Kumar +3 more
doaj +1 more source
Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case
Case Reports in Radiology, Volume 2026, Issue 1, 2026.Proteus syndrome is an uncommon, sporadic disorder characterized by progressive and heterogeneous overgrowth of tissues, resulting in distorted and asymmetric development. In most individuals, Proteus syndrome has minimal to no manifestations at birth but progresses during childhood and adolescence.
Cody Reid Johnson +3 more
wiley +1 more source
Journal of Tissue Engineering and Regenerative Medicine, Volume 2026, Issue 1, 2026.Objective Reconstruction of critical‐sized bone defects, particularly in the cranio‐maxillofacial region, presents unique challenges due to the need for integration with adjacent well‐vascularized tissue and the absence of significant load‐bearing requirements.
Griffin P. Bins +11 more
wiley +1 more source
Endoscopic-assisted craniosynostosis surgery: First case series in India
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2019 Introduction: Craniosynostosis is a congenital pathological condition resulting from premature fusion of sutures of the cranial vault and leads to an abnormal head shape with a significant risk of raised intracranial pressure.
Derick A Mendonca +3 more
doaj +1 more source
THE PREVALENCE OF BIRTH DEFECTS AMONG NON-HISPANIC ASIANS AND AMERICAN INDIANS/ALASKA NATIVES IN TEXAS, 1999-2015 [PDF]
, 2019 Background: Birth defects are disproportionately higher among certain race/ethnic groups. We examined how birth defects prevalence differs among the less studied non-Hispanic (NH) Asian and any American Indian/Alaska Native (AI/AN) populations, relative ...
LE, VAN
core +1 more source