Results 91 to 100 of about 15,355 (176)
Italian Journal of PediatricsBackground This study aimed to investigate the differences in anterior fontanelle closure time and size between children with non-syndromic craniosynostosis and controls on CT imaging. Methods A retrospective cross-sectional study was conducted involving
Jinhua Fu +4 more
doaj +1 more source
Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao +5 more
wiley +1 more source
Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature
Clinical Genetics, Volume 110, Issue 4, Page 480-486, October 2026.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 +6 more
wiley +1 more source
Craniosynostosis: A Reversible Pathology?
, 2019 The formation of the cranial sutures, in utero, occurs when the ossification of the skull bones reaches predestined positions around gestational week 15 to 20.
Peter Tarnow +7 more
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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
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
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Endoscopy-assisted craniosynostosis surgery followed by helmet therapy
, 2018 Background: Surgical methods to treat craniosynostosis have evolved from a simple strip craniectomy to a diverse spectrum of partial or complete cranial vault remodeling with excellent results but often with high comorbidity.
Borstlap, W.A. +5 more
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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
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Need for standard outcome reporting systems in craniosynostosis
, 2011 Craniosynostosis is the premature fusion of one or more cranial sutures. When a cranial suture fuses prematurely, skull growth is altered and the head takes on a characteristic pathological shape determined by the suture(s) that fuses. Numerous treatment
Caroline Szpalski +3 more
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Craniosynostosis: clinical and fundamental aspects [PDF]
, 2000 Prior to the discovery of the genetic background of craniosynostosis, its classification was purely based on clinical features. This classification system did however have its pitfalls which became more obvious after comparing it with the detected ...
Mathijssen, I.M.J. (Irene)
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