Results 111 to 120 of about 18,979 (223)
Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 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
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
Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy
Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Syndromic Craniosynostosis: Complexities of Clinical Care
Molecular Syndromology, 2019 Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the premature closure of their cranial sutures and associated facial and extra-cranial features.
J. O’Hara +12 more
semanticscholar +1 more source
Scientific Reports, 2019 Craniosynostosis must often be corrected using surgery, by which the affected bone tissue is remodeled. Nowadays, surgical reconstruction relies mostly on the subjective judgement of the surgeon to best restore normal skull shape, since remodeled bone is
David García-Mato +9 more
semanticscholar +1 more source
Orphanet Journal of Rare DiseasesBackground Sagittal suture craniosynostosis is the most usual subtype of craniosynostosis which results from premature fusion of the sagittal suture. It leads to an elongated skull shape known as scaphocephaly. This condition necessitates timely surgical
Julia Hermann +3 more
doaj +1 more source
Neurochirurgie, 2019 The aim of the present study was to review the literature on ENT disorders associated with craniosynostosis (CS), focusing on symptoms, diagnostic work-up, treatment and outcome.Publications were retrieved by consulting the PubMed® free search engine of the US National Library of Medicine. The term "craniosynostosis" was combined with the following key-
V, Couloigner, S, Ayari Khalfallah
openaire +3 more sources
Interdisciplinary Neurosurgery, 2015 Craniosynostosis is the premature fusion of cranial sutures, occurring at a rate of approximately 1 in 2000 live births; it is usually diagnosed and treated within the first year-of-life. Some diagnoses are delayed and only detected later in childhood or
Rajiv J. Iyengar, BS +4 more
doaj +1 more source
Patient Experience JournalObjective: Craniosynostosis is characterised by the early fusion of cranial sutures, resulting in an abnormal head shape. This study examines the psychosocial impact of a child's craniosynostosis diagnosis on families, by analysing online forum ...
Elisha L. Rea +2 more
doaj +1 more source