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Craniosynostosis

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https://www.readbyqxmd.com/read/28440577/variable-developmental-delays-and-characteristic-facial-features-a-novel-7p22-3p22-2-microdeletion-syndrome
#1
Andrea C Yu, Regina M Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, Christine M Armour
Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436074/an-evaluation-of-the-mixed-pediatric-unit-for-blood-loss-replacement-in-pediatric-craniofacial-surgery
#2
Stefan Mogensen, Norbert Lubenow, Pelle Nilsson, Henrik Engquist, Folke Knutsson, Per Enblad, Daniel Nowinski, Peter Frykholm
BACKGROUND: Surgical correction for craniosynostosis is often associated with significant perioperative hemorrhage. We implemented a transfusion strategy with a strict protocol including transfusion triggers, frequent assessment of coagulation tests, and the use of a novel transfusion unit, the mixed pediatric unit. AIM: The aim of the study was to evaluate if the applied transfusion strategy could reduce total blood loss and number of blood donors. METHODS: Children <1 year old admitted for craniosynostosis surgery were included for the study...
April 23, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28434829/use-of-cutting-guides-during-craniosynostosis-sequelae-surgery-a-comparative-study-between-computer-assisted-planning-and-post-operative-results
#3
Chrystelle Queiros, Aline Joly, Arnaud Paré, Antoine Listrat, Nadine Travers, Dominique Goga, Boris Laure
BACKGROUND: The authors compared results of craniofacial reconstruction surgery using cutting guides with planned reconstruction on patients presenting craniosynostosis surgery sequelae. METHODS: This is a retrospective study performed on seven patients who had undergone craniofacial reconstructive surgery in University Hospital Center of Tours (France) in 2015. Patients had long-term sequelae of trigonocephaly and anterior plagiocephaly surgery. 3D computer model was constructed, based on CT scans and used for surgical planning...
March 28, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28426184/alterations-in-mandibular-morphology-associated-with-glypican-1-and-glypican-3-gene-mutations
#4
M Mian, S Ranjitkar, G C Townsend, P J Anderson
OBJECTIVES: Glypican 1 (GPC1) and glypican 3 (GPC3) are bone co-regulators that act downstream in many of the signalling pathways associated with craniosynostosis. Morphometric data from GPC-knockout mice were analysed to determine whether elimination of GPC1 and GPC3 genes would alter mandibular morphology. SETTING AND SAMPLE POPULATION: The murine model included five male and five female mandibles in each of GPC1-knockout, GPC1/GPC3-knockout and wild-type (control) groups...
April 20, 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28415053/-treatment-types-and-optimal-age-for-craniosynostosis
#5
Yoshiaki Sakamoto, Tomoru Miwa
No abstract text is available yet for this article.
April 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28413181/review-of-past-reports-and-current-concepts-of-surgical-management-for-craniosynostosis
#6
Shigeo Kyutoku, Takayuki Inagaki
The purposes of surgery for craniosynostosis are to release increased intracranial pressure and to normalize cranial shape. The procedure was developed from a simple strip craniectomy in practice which ranged from the removal of the fused suture before the 1960s to total calvarial remodeling after 1970s and later methods of the 1990s, such as distraction and its modifications. According to its history, craniofacial surgeons might be changing their procedures with more effective, than less invasive ways. Since the late 1990s, when the distraction was applied to the craniofacial surgery, the gradual expansion, in particular of the anterior cranium, common in Japan, has long been controversial until the Caucasians accepted its use for the posterior cranium...
April 12, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28411082/a-dominant-negative-fgfr1-mutation-identified-in-the-kallmann-syndrome-patient
#7
Hunjin Luo, Ruizhi Zheng, Yaguang Zhao, Jiayu Wu, Jie Li, Fang Jiang, Dan-Na Chen, Xiao-Tao Zhou, Jia-Da Li
Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia. Fibroblast growth factor receptor 1 (FGFR1) is one of KS-associated genes, account for approximately 10% of total patients. FGFR1 mutations have also been identified in more severe craniosynostosis syndromes, and a subset of craniosynostosis syndromes-associated FGFR1 mutations show dominant negative effect. In this study, we identified a novel FGFR1 mutation (c.867G>A; p.W289X) in a KS patient. The p.W289X mutation leads premature termination, producing a truncated FGFR1 without the transmembrane and intracellular domains...
April 11, 2017: Gene
https://www.readbyqxmd.com/read/28409698/less-is-more-does-the-addition-of-barrel-staves-improve-results-in-endoscopic-strip-craniectomy-for-sagittal-craniosynostosis
#8
Benjamin C Wood, Edward S Ahn, Joanna Y Wang, Albert K Oh, Robert F Keating, Gary F Rogers, Suresh N Magge
OBJECTIVE Endoscopic strip craniectomy (ESC) with postoperative helmet orthosis is a well-established treatment option for sagittal craniosynostosis. There are many technical variations to the surgery ranging from simple strip craniectomy to methods that employ multiple cranial osteotomies. The purpose of this study was to determine whether the addition of lateral barrel-stave osteotomies during ESC improved morphological outcomes. METHODS An IRB-approved retrospective review was conducted on a consecutive series of cases involving ESC for sagittal craniosynostosis at 2 different institutions from March 2008 to August 2014...
April 14, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28392059/a-new-method-for-three-dimensional-evaluation-of-the-cranial-shape-and-the-automatic-identification-of-craniosynostosis-using-3d-stereophotogrammetry
#9
J W Meulstee, L M Verhamme, W A Borstlap, F Van der Heijden, G A De Jong, T Xi, S J Bergé, H Delye, T J J Maal
Craniosynostosis is a congenital defect which can result in abnormal cranial morphology. Three dimensional (3D) stereophotogrammetry is potentially an ideal technique for the evaluation of cranial morphology and diagnosis of craniosynostosis because it is fast and harmless. This study presents a new method for objective characterization of the morphological abnormalities of scaphocephaly and trigonocephaly patients using 3D photographs of patients and healthy controls. Sixty 3D photographs of healthy controls in the age range of 3-6 months were superimposed and scaled...
April 6, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28389105/force-measurements-during-posterior-calvarial-vault-osteodistraction-a-novel-measurement-method
#10
A Ritvanen, M Savolainen, D Nowinski, D Saiepour, M Paulasto-Kröckel, J Hukki, E Tukiainen, J Leikola
Posterior calvarial vault osteodistraction (PCVO) has become increasingly popular in the correction of craniosynostosis. When compared to cranioplasty, PCVO offers a shorter, less invasive operation, greater intracranial volume advancement and a lower rate of relapse. In general, distraction protocols are based primarily on clinical observations rather than systematic research. Faster distraction protocols may reduce complications. However, distraction protocols producing higher forces can increase complications...
March 2, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28386950/gastrointestinal-disorders-in-curry-jones-syndrome-clinical-and-molecular-insights-from-an-affected-newborn
#11
Kristen Wigby, Stephen R F Twigg, Ryan Broderick, Katherine P Davenport, Andrew O M Wilkie, Stephen W Bickler, Marilyn C Jones
Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes the gastrointestinal and surgical findings in a baby with CJS who presented with abdominal obstruction and reviews the spectrum of gastrointestinal malformations in this rare disorder. A 41-week, 4,165 g, female presented with craniosynostosis, pre-axial polysyndactyly, and cutaneous findings consistent with a clinical diagnosis of CJS...
April 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28383737/increases-in-cranial-volume-with-posterior-cranial-vault-distraction-in-31-consecutive-cases
#12
Niina Salokorpi, Ville Vuollo, Juha-Jaakko Sinikumpu, Leonid Satanin, Heleia Nestal Zibo, Leena P Ylikontiola, Pertti Pirttiniemi, George K Sándor, Willy Serlo
BACKGROUND: Posterior cranial vault distraction (PCVD) is a technique widely used in surgical treatment of craniosynostosis when cranial expansion is required. It has proven to be safe and to allow a significant increase of intracranial volume. OBJECTIVE: To evaluate increases in intracranial volume as a result of PCVD performed in Oulu Craniofacial center using 2 different methods based on 3-dimensional (3-D) photogrammetric imaging or plain skull radiographs. METHODS: All children less than 16 yr of age who were treated by PCVD (n = 31) from 2009 to 2015 at the Oulu Craniofacial Center were included...
April 5, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28374925/clinical-spectrum-of-kabuki-like-syndrome-caused-by-hnrnpk-haploinsufficiency-case-report-and-literature-review
#13
Maria Lisa Dentici, Sabina Barresi, Marcello Niceta, Francesca Pantaleoni, Simone Pizzi, Bruno Dallapiccola, Marco Tartaglia, Maria Cristina Digilio
Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial dysmorphisms and a variable range of organ malformations. In approximately 30% of affected individuals, the underlying genetic defect remains unknown. A small number of inactivating heterozygous HNRNPK mutations has recently been reported to be associated with a condition partially overlapping or suggestive of Kabuki syndrome. Here, we report on an 11 year-old girl with a complex phenotype in whom the diagnosis of KS was suggested but molecular testing for the known causative disease genes was negative...
April 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28371282/med13l-haploinsufficiency-syndrome-a-de-novo-frameshift-and-recurrent-intragenic-deletions-due-to-parental-mosaicism
#14
Toshiyuki Yamamoto, Keiko Shimojima, Yumiko Ondo, Shuichi Shimakawa, Nobuhiko Okamoto
MED13L haploinsufficiency syndrome is a clinical condition manifesting intellectual disability and developmental delay in association with various complications including congenital heart defects and dysmorphic features. Most of the previously reported patients showed de novo loss-of-function mutations in MED13L. Additional three patients with MED13L haploinsufficiency syndrome were identified here in association with rare complications. One patient had a de novo deletion (c.257delT) and T2-weighted high intensity in the occipital white matter on magnetic resonance imaging...
March 29, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28369379/localized-twist1-and-twist2-basic-domain-substitutions-cause-four-distinct-human-diseases-that-can-be-modeled-in-c-elegans
#15
Sharon Kim, Stephen R F Twigg, Victoria A Scanlon, Aditi Chandra, Tyler J Hansen, Arwa Alsubait, Aimee L Fenwick, Simon J McGowan, Helen Lord, Tracy Lester, Elizabeth Sweeney, Astrid Weber, Helen Cox, Andrew O M Wilkie, Andy Golden, Ann K Corsi
Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific craniofacial disorders. Here we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations...
March 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28362186/a-proposal-for-a-new-classification-of-complications-in-craniosynostosis-surgery
#16
Dmitri Shastin, Sharron Peacock, Velu Guruswamy, Melpo Kapetanstrataki, David T Bonthron, Maggie Bellew, Vernon Long, Lachlan Carter, Ian Smith, John Goodden, John Russell, Mark Liddington, Paul Chumas
OBJECTIVE Complications have been used extensively to facilitate evaluation of craniosynostosis practice. However, description of complications tends to be nonstandardized, making comparison difficult. The authors propose a new pragmatic classification of complications that relies on prospective data collection, is geared to capture significant morbidity as well as any "near misses" in a systematic fashion, and can be used as a quality improvement tool. METHODS Data on complications for all patients undergoing surgery for nonsyndromic craniosynostosis between 2010 and 2015 were collected from a prospective craniofacial audit database maintained at the authors' institution...
March 31, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28358766/early-complications-and-associated-perioperative-factors-in-nonsyndromic-craniosynostosis
#17
Yunhe Lu, Abdulsamad Ghanem, Tianyi Cai, Junyi Yang, Xiongzheng Mu
This is the first Eastern center-based retrospective report on early complications and associated perioperative factors of nonsyndromic craniosynostosis (NSC). The authors' purpose is to tailor preoperative counseling, convey objective perioperative data, and determinants for early complications in NSC so as to enhance exchanges with international center. Inclusion criteria required a diagnosis of NSC confirmed by 3-dimentional computed tomography scans and complete medical record. Genetic evidence of syndromic craniosynostosis was excluded...
March 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28358762/craniosynostosis-and-guanine-nucleotide-binding-protein-alpha-stimulating-mutation-risk-of-bleeding-diathesis-and-circulatory-collapse-in-patients-undergoing-cranial-vault-reconstruction
#18
Oluwaseun A Adetayo, Jeffrey A Fearon
Reconstruction of the craniosynostosis deformity is a relatively safe operation with low overall complication risks. Despite expected risk of significant blood loss, life-threatening bleeding is relatively rare, and there is a low incidence of reported deaths in the literature. Several modalities have been described for perioperative mitigation of blood loss and transfusion requirements. Due to the low overall risk of life-threatening bleeding and circulatory collapse, it is judicious that any potential causes of such unusual but potentially significant fatal bleeding complication be evaluated and reported to increase awareness for craniofacial surgeons treating these conditions...
March 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28358413/nationwide-survey-of-baller%C3%A2-gerold-syndrome-in-japanese-population
#19
Hideo Kaneko, Rie Izumi, Hirotsugu Oda, Osamu Ohara, Kiyoko Sameshima, Hidenori Ohnishi, Toshiyuki Fukao, Michinori Funato
Baller-Gerold syndrome (BGS) is a rare autosomal genetic disorder characterized by radial aplasia/hypoplasia and craniosynostosis. The causative gene for BGS encodes RECQL4, which belongs to the RecQ helicase family. To understand BGS patients in Japan, a nationwide survey was conducted, which identified 2 families and 3 patients affected by the syndrome. All the three patients showed radial defects and craniosynostosis. In one patient who showed a dislocated joint of the hip and flexion contracture of both the elbow joints and wrists at birth, a homozygous large deletion in the RECQL4 gene was identified...
May 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28350679/frontal-sinus-volume-and-frontal-bar-position-are-associated-in-unicoronal-craniosynostosis
#20
Wen Xu, Patrick A Gerety, Jing Li, Scott P Bartlett, Jesse A Taylor
BACKGROUND: Frontal sinus pneumatization plays an important role in brow protrusion, and absence of frontal sinus development may be associated with brow retrusion. Using unicoronal craniosynostosis as a model, the authors studied the relationship among frontal sinus volume, supraorbital retrusion, and brow position. METHODS: The authors conducted a retrospective review of unicoronal craniosynostosis patients with head computed tomographic scans and photographs taken from ages 5 to 18 years...
April 2017: Plastic and Reconstructive Surgery
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