Results 31 to 40 of about 2,291 (161)
The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra‐rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurrent acute ear and sinus ...
Christopher K. Zalewski +7 more
wiley +1 more source
Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children
Developmental Medicine &Child Neurology, EarlyView.In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng +14 more
wiley +1 more source
National Journal of Clinical Anatomy, 2015 Apert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births.
A Barman, B C Dutta, J K Sarkar
doaj +1 more source
Understanding exosomes in regenerative dentistry
Periodontology 2000, EarlyView.Abstract Background Regenerative dentistry is shifting from cell‐based strategies to cell‐free biologics capable of orchestrating intricate tissue repair. Exosomes, nanosized extracellular vesicles carrying bioactive molecular payloads, have emerged as central modulators of intercellular communication.
Paras Ahmad +2 more
wiley +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome
Disease Models & Mechanisms, 2013 SUMMARY Apert syndrome is a congenital disorder characterized by severe skull malformations and caused by one of two missense mutations, S252W and P253R, on fibroblast growth factor receptor 2 (FGFR2).
Neus Martínez-Abadías +6 more
doaj +1 more source
Bangladesh Medical Journal Khulna, 2012 Apert syndrome is a rare autosomal dominant malformation. In the recent past we encountered a boy of 16 months with fusion of both fingers and toes, dysmorphic facial features presenting with cough and respiratory distress in Khulna Medical College hospital. Considering the general paucity of cases of acrocephalosyndactyly in the Bangladeshi literature,
SM Rahman +3 more
openaire +2 more sources
ERK‐Mediated Phosphorylation of YAP Defines a Noncanonical FGF Signaling Mechanism in Stem Cells
Advanced Science, Volume 13, Issue 37, 3 July 2026.With a powerful combination of in vivo, ex vivo, and in vitro models, the authors highlight a novel FGF‐ERK signaling regulation of YAP at the S128 site in neural crest‐derived stem cells. This study opens exciting new directions in stem cell biology and craniofacial biology, paving the way for potential innovations in the treatment of craniofacial ...
Xiaolei Zhao +16 more
wiley +1 more source
Apert Syndrome Presenting with Omphalocele [PDF]
Journal of Krishna Institute of Medical Sciences University, 2019 Apert syndrome is a congenital acrocephalosyndactyly syndrome. It is mainly presented by craniosynostosis, syndactyly of the hands and feet and dysmorphic facial features.
Keerti Swarnkar +4 more
doaj
Controversies Surrounding Critical‐Size Defects: Influence of Age and Biological Characteristics
Journal of Biomedical Materials Research Part B: Applied Biomaterials, Volume 114, Issue 6, June 2026.ABSTRACT Critical‐size defects (CSDs) in craniofacial reconstruction refer to osseous gaps that fail to heal spontaneously, increasing the risk of neurological impairment and craniofacial dysmorphology. Despite decades of investigation, controversy still exists surrounding the definition of CSDs, with criteria varying across species, experimental ...
Andrew Nordlund +7 more
wiley +1 more source