Clinical genetics of craniosynostosis
AOM Wilkie, D Johnson, SA Wall - Current opinion in pediatrics, 2017 - journals.lww.com
Strategies to optimize clinical genetic diagnostic pathways by combining both targeted and
next-generation sequencing are discussed. In addition to improved genetic counseling …
next-generation sequencing are discussed. In addition to improved genetic counseling …
The clinical manifestations, molecular mechanisms and treatment of craniosynostosis
E Stanton, M Urata, JF Chen… - Disease Models & …, 2022 - journals.biologists.com
Craniosynostosis is a major congenital craniofacial disorder characterized by the premature
fusion of cranial suture (s). Patients with severe craniosynostosis often have impairments in …
fusion of cranial suture (s). Patients with severe craniosynostosis often have impairments in …
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is
treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations …
treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations …
Hand in glove: brain and skull in development and dysmorphogenesis
JT Richtsmeier, K Flaherty - Acta neuropathologica, 2013 - Springer
The brain originates relatively early in development from differentiated ectoderm that forms a
hollow tube and takes on an exceedingly complex shape with development. The skull is …
hollow tube and takes on an exceedingly complex shape with development. The skull is …
Decoding the human face: progress and challenges in understanding the genetics of craniofacial morphology
Variations in the form of the human face, which plays a role in our individual identities and
societal interactions, have fascinated scientists and artists alike. Here, we review our current …
societal interactions, have fascinated scientists and artists alike. Here, we review our current …
A review of the management of single-suture craniosynostosis, past, present, and future: JNSPG 75th Anniversary Invited Review Article
MR Proctor, JG Meara - Journal of Neurosurgery: Pediatrics, 2019 - thejns.org
BACKGROUND Craniosynostosis is a condition in which 2 or more of the skull bones fuse
prematurely. The spectrum of the disorder most commonly involves the closure of a single …
prematurely. The spectrum of the disorder most commonly involves the closure of a single …
A genetic-pathophysiological framework for craniosynostosis
SRF Twigg, AOM Wilkie - The American Journal of Human Genetics, 2015 - cell.com
Craniosynostosis, the premature fusion of one or more cranial sutures of the skull, provides
a paradigm for investigating the interplay of genetic and environmental factors leading to …
a paradigm for investigating the interplay of genetic and environmental factors leading to …
Understanding craniosynostosis as a growth disorder
K Flaherty, N Singh… - Wiley Interdisciplinary …, 2016 - Wiley Online Library
Craniosynostosis is a condition of complex etiology that always involves the premature
fusion of one or multiple cranial sutures and includes various anomalies of the soft and hard …
fusion of one or multiple cranial sutures and includes various anomalies of the soft and hard …
Evidence-based medicine: craniosynostosis
JA Fearon - Plastic and reconstructive surgery, 2014 - journals.lww.com
This article provides an overview of the diagnosis and management of infants with
craniosynostosis. This review also incorporates some of the treatment philosophies followed …
craniosynostosis. This review also incorporates some of the treatment philosophies followed …
Genetic advances in craniosynostosis
W Lattanzi, M Barba, L Di Pietro… - American journal of …, 2017 - Wiley Online Library
Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and
genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live …
genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live …