Results 31 to 40 of about 3,158 (217)

The clinical manifestations, molecular mechanisms and treatment of craniosynostosis

Disease Models & Mechanisms, 2022
Craniosynostosis is a major congenital craniofacial disorder characterized by the premature fusion of cranial suture(s). Patients with severe craniosynostosis often have impairments in hearing, vision, intracranial pressure and/or neurocognitive ...
Eloise Stanton, Mark Urata, Jian-Fu Chen, Yang Chai   +3 more
doaj   +1 more source

Diagnostic value of exome and whole genome sequencing in craniosynostosis [PDF]

, 2017
Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ~1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of
Abid, N. (Noina), Cilliers, D. (Deirdre), Craft, J. (Judith), Fenwick, A.L. (Aimée), Goos, J.A.C. (Jacqueline), Hurst, J.A. (Jane), Johnson, D. (David), Lester, K.J. (Kathryn), Lord, H. (Helen), Mathijssen, I.M.J. (Irene), McGowan, S.J. (Simon), Miller, K.A. (Kerry A.), Morton, J. (Jenny), Noons, P. (Peter), Phipps, J.M. (Julie), Rees, K.E.M. (Katie E.M.), Spek, P.J. (Peter) van der, Swagemakers, S.M.A. (Sigrid), Sweeney, E. (Elizabeth), Taylor, J. (John), Taylor, J.C. (Jenny C.), Tidey, E.A. (Elizabeth A.), Twigg, S.R.F. (Stephen), Wall, S.A. (Steven), Weber, A. (Astrid), Wilkie, A.O.M. (Andrew), Wilson, L.C. (Louise)   +26 more
core   +1 more source

Paleopathological Analysis of Craniosynostosis (CS): Two Cases of Plagiocephaly from the Archaeological Site of Kayalıpınar, Sivas, Turkey

Anadolu Araştırmaları
This article describes two individuals diagnosed with craniosynostosis. The archaeological human remains were uncovered from Kayalıpınar excavations in Sivas's province in Turkey. The skeletons described here belong to the Byzantine period.
İbrahim Sarı, Sercan Acar, Ayşen Açıkkol   +2 more
doaj   +1 more source

Dynamic contrast-enhanced magnetic resonance perfusion of the brain in children with craniosynostosis

Вестник медицинского института «Реавиз»: Реабилитация, врач и здоровье
Craniosynostosis is the premature closure of cranial sutures, leading to skull deformation, cranio-cerebral disproportion, and potentially resulting in the development of intracranial hypertension, persistent neurological, and cognitive impairments ...
M. V. Lukin, Ya. A. Filin, A. V. Zvezdin, D. A. Beregovskiy, A. Yu. Efimtsev, G. E. Trufanov   +5 more
doaj   +1 more source

Twist1- and Twist2-haploinsufficiency results in reduced bone formation. [PDF]

PLoS ONE, 2014
Twist1 and Twist2 are highly homologous bHLH transcription factors that exhibit extensive highly overlapping expression profiles during development. While both proteins have been shown to inhibit osteogenesis, only Twist1 haploinsufficiency is associated
Yanyu Huang, Tian Meng, Suzhen Wang, Hua Zhang, Gabriele Mues, Chunlin Qin, Jian Q Feng, Rena N D'Souza, Yongbo Lu   +8 more
doaj   +1 more source

Apert syndrome: the Paris and Rotterdam philosophy [PDF]

, 2017
Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet.
Arnaud, E. (Eric), Bredero-Boelhouwer, H.H. (Hansje), Driessen, C. (Caroline), Joosten, K.F.M. (Koen), Mathijssen, I.M.J. (Irene), Nieuwenhoven, C.A. (Christianne) van, Veelen-Vincent, M.L.C. (Marie-Lise) van, Versnel, S.L. (Sarah), Wolvius, E.B. (Eppo)   +8 more
core   +2 more sources

Trigonocephaly in rabbits with familial interfrontal suture synostosis: The multiple effects of premature single-suture fusion [PDF]

The Anatomical Record, 2000
Previous studies from our laboratory have characterized the craniofacial morphology and growth patterns of an inbred strain of rabbits with autosomal dominant coronal suture synostosis. A number of rabbit perinates from this colony have been collected sporadically over a 5-year period with premature interfrontal suture synostosis.
M P, Mooney, G M, Cooper, A M, Burrows, W, Wigginton, T D, Smith, J, Dechant, R, Mitchell, H W, Losken, M I, Siegel   +8 more
openaire   +2 more sources

Craniosynostosis of coronal suture in Twist1+/- mice occurs through endochondral ossification recapitulating the physiological closure of posterior frontal suture

Frontiers in Physiology, 2011
Craniosynostosis, the premature closure of cranial suture, is a pathologic condition that affects 1/2000 live births. Saethre-Chotzen syndrome is a genetic condition characterized by craniosynostosis.
Bjorn eBehr, Michael T Longaker, Natalina eQuarto, Natalina eQuarto   +3 more
doaj   +1 more source

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

BMC Medical Genetics, 2020
Background ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology.
Izabella Körberg, Daniel Nowinski, Marie-Louise Bondeson, Malin Melin, Lars Kölby, Eva-Lena Stattin   +5 more
doaj   +1 more source

Crouzon′s syndrome: A review of literature and case report

Contemporary Clinical Dentistry, 2011
Crouzon′s syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder.
Vivek Padmanabhan, Amitha M Hegde, Kavita Rai   +2 more
doaj   +1 more source