Results 91 to 100 of about 13,286 (221)
, 2011 Pfeiffer syndrome (OMIM 101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, ocular proptosis and digital malformations.
陳持平;林炫沛;蘇怡寧;蔡輔仁;王偉信 +1 more
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Transcriptomic Signatures of Single-Suture Craniosynostosis Phenotypes
, 2023 Craniosynostosis is a birth defect where calvarial sutures close prematurely, as part of a genetic syndrome or independently, with unknown cause. This study aimed to identify differences in gene expression in primary calvarial cell lines derived from ...
Jonas A. Gustafson +4 more
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Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 66, Issue 3, June 2026.ABSTRACT Background Graves' disease presents unique challenges in pregnancy due to the risk of neonatal morbidity and mortality from maternal TSH Receptor antibodies (TRAb). A maternity hospital in Queensland has implemented a policy to identify at‐risk neonates and facilitate follow‐up, including cord blood TRAb, thyroid function tests (TFTs), and ...
Umesha Pathmanathan +2 more
wiley +1 more source
FGF and TGFbeta signalling in an in-vitro model of craniosynostosis
, 2009 Fibroblast Growth Factor (FGF) and Transforming Growth Factor beta (TGFbeta) are key regulators of bone development. Constitutively activating mutations of FGF Receptors (FGFR) 1-3 result in craniosynostosis, premature fusion of cranial sutures.
Lee, K.M.A.
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Orthodontics &Craniofacial Research, Volume 29, Issue 3, Page 538-545, June 2026.ABSTRACT Objective Mandibular retrognathism (MR) is a skeletal malocclusion in which patients have a deficient mandibular length, resulting in a more posterior position of the mandible. We aimed to investigate the association between Single nucleotide polymorphisms (SNPs) in Fibroblast Growth Factor Receptor 2 (FGFR2) gene and MR in germans.
Caio Luiz Bitencourt Reis +9 more
wiley +1 more source
Birth Defects Res A Clin Mol Teratol [PDF]
BackgroundEvidence in animal models and humans suggests that exposure to polycyclic aromatic hydrocarbons (PAHs) may lead to birth defects. To our knowledge, this relationship has not been evaluated for craniosynostosis, a birth defect characterized by ...
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Identification of Candidate Genes for Craniosynostosis
, 2015 Craniosynostosis is a disorder characterized by the premature fusing of cranial sutures in an infant. Premature closure of these sutures can lead to detrimental consequences on the development of a child.
Rymer, Karen
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Craniosynostosis - Recognition, clinical characteristics, and treatment
, 2017 Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. The main cause of craniosynostosis is premature closure of one or more cranial sutures.
Spazzapan, Peter +5 more
core +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