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Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier
Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations (including 10 novel mutations). The mutations affected different functional domains of the EVI1 protein. The spectrum of phenotypes was much broader than initially reported for the first 3 patients; we found familial as well as sporadic cases, and the clinical spectrum ranged from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormality...
March 27, 2018: Blood Advances
Rosalinda Calandrelli, Fabio Pilato, Luca Massimi, Marco Panfili, Gabriella D'Apolito, Simona Gaudino, Cesare Colosimo
PURPOSE: Craniosynostostic syndromes are due to multisuture synostoses and affect the entire craniofacial skeleton. This study analyzed the facial complex and airways to quantify the relationship between insufficient facial growth, airways obstruction, and the sutural pattern of the splanchnocranium and cranial fossae. METHODS: Preoperative high-resolution CT images in 19 infants with syndromic craniosynostosis were quantitatively analyzed. Because all children showed involvement of minor sutures/synchondroses coursing in the posterior cranial fossa, they were divided into three groups according to the synostotic involvement of "minor" sutures/synchondroses coursing in anterior (ACF) and middle (MCF) cranial fossae: group 1 (ACF), group 2 (MCF), and group 3 (ACF-MCF)...
March 8, 2018: Neuroradiology
Isidro Jiménez, Pedro J Delgado
Proximal radioulnar synostosis is a rare but highly disabling posttraumatic complication in periarticular elbow injuries. Surgical treatment is an option for functionally limiting proximal radioulnar synostosis; however, the approach can endanger local neurovascular structures, especially if the synostosis affects the level of the bicipital tuberosity. We report two cases of proximal radioulnar synostosis with a preoperative prono-supination range of motion of 0° and 15° treated by a reverse Sauvé-Kapandji procedure resecting a 1-cm section of the radial shaft distal to the bicipital tuberosity and leaving the synostosis in place...
March 8, 2018: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
Amanda Walne, Hemanth Tummala, Alicia Ellison, Shirleny Cardoso, Jasmin Sidhu, Gabriela Sciuccati, Tom Vulliamy, Inderjeet Dokal
No abstract text is available yet for this article.
March 8, 2018: Haematologica
Rajiv R Iyer, Carolyn M Carey, S Alex Rottgers, Lisa Tetreault, Nir Shimony, Jennifer Katzenstein, Ernesto Ruas, Gerald F Tuite
OBJECTIVE Infants with severe hydrocephalus and extreme macrocephaly typically undergo CSF diversion early in life, which can result in significant cranial deformity due to CSF overdrainage. In this scenario, overlap of the cranial plates can precede the development of secondary synostosis and/or severe, permanent cranial deformity. As a result, extensive cranial vault remodeling is sometimes undertaken later in life, which is often challenging and has been associated with mortality and a high morbidity rate...
March 2, 2018: Journal of Neurosurgery. Pediatrics
John W Stelzer, Miguel A Flores, Waleed Mohammad, Nathan Esplin, Jonathan J Mayl, Christopher Wasyliw
Introduction: Klippel-Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation: A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup...
2018: Case Reports in Orthopedics
A J Osborn, R M Roberts, J L Mathias, P J Anderson, W J Flapper
Neurodevelopmental delays are known to occur in children with metopic synostosis, but it is presently unclear whether the cognitive, behavioral and psychological outcomes of children with metopic synostosis differ to those of their healthy peers. This meta-analysis consolidated data from 17 studies (published prior to August 2017) that examined the cognitive, behavioral and psychological outcomes of children (n = 666; aged ≤19 yrs) with metopic synostosis. Hedges'g (gw ) effect sizes compared the outcomes of samples with metopic synostosis (unoperated, operated) to healthy controls or normative data and, where available, the prevalence of problems/disorders was calculated...
February 26, 2018: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
Ruggero Bevilacqua, Peter Tarnow, Lars Kölby, Giovanni Maltese
Multisutural nonsyndromic craniosynostosis is a rare group of malformations, whose frequency has been reported between 3% and 7% of all craniosynostosis. The clinical diagnosis can be difficult and computed tomography is usually required. Surgical treatment is challenging and staged procedures are performed in up to 80% of patients. The aim of the present study was to determine the reoperation rate and to evaluate the surgical outcomes by measuring intracranial volume (ICV) preoperatively and at follow-up, and comparing it to a control group...
February 23, 2018: Journal of Craniofacial Surgery
Elena Pellicer, Babette S Siebold, Craig B Birgfeld, Emily R Gallagher
BACKGROUND: The recommended treatment for craniosynostosis, is cranial vault expansion to prevent increased intracranial pressure and optimize developmental outcomes. Some patients complain about postoperative headaches and occasionally require revision to treat increased intracranial pressure. This study examines whether specific factors are associated with an increased risk of postoperative headaches or intracranial hypertension. METHODS: This retrospective cohort included patients with craniosynostosis from 1995 and 2010...
March 2018: Plastic and Reconstructive Surgery
Andrea E Copeland, Caitlin E Hoffman, Vassilios Tsitouras, Dhruve S Jeevan, Emily S Ho, James M Drake, Christopher R Forrest
Background: The pattern of cranial venous drainage in syndromic craniosynostosis is unpredictable and not adequately understood. Collateral channels substitute for stenotic venous sinuses and pose potential risk for surgical intervention. The purpose of this study was to analyze the patterns of venous drainage in patients with syndromic craniosynostosis and their influence on operative planning and morbidity. Methods: A retrospective study of patients with syndromic craniosynostosis from 2000 to 2013 was performed...
January 2018: Plastic and Reconstructive Surgery. Global Open
Andrew J Kobets, Adam Ammar, Jonathan Nakhla, Aleka Scoco, Rani Nasser, James T Goodrich, Rick Abbott
INTRODUCTION: Sagittal synostosis affects 1 in 1000 live births and may result in increased intracranial pressure, hindrance of normal neural development, and cosmetic deformity due to scaphocephaly. Historically, several approaches have been utilized for surgical correction and recently, computed tomography (CT)-guided reconstruction procedures are increasingly used. In this report, the authors describe the use of a CT-derived virtual and stereolithographic (3D printed) craniofacial models, which are used to guide intraoperative bone placement, and intraoperative CT guidance for confirmation of bone placement, to ensure the accuracy of surgical correction of scaphocephaly, as demonstrated to parents...
February 19, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
David Chesler, Richard Bram, Prince Antwi, Andrew T Timberlake, Michael L DiLuna, Kristopher T Kahle
INTRODUCTION: Craniosynostosis is the premature fusion of one or more cranial sutures. The cause of non-syndromic craniosynostosis has been attributed to a complex interaction among genetic, epigenetic, and environmental factors. Increased concordance rates in monozygotic twins support a genetic etiology while a concordance rate less than 100% suggests environmental and/or epigenetic influences. Here, we describe the first reported occurrence of all three children in a triplet set with non-syndromic single-suture craniosynostosis...
February 19, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Khai Luen Koh, Ali Zain
: Open cranial vault remodeling techniques require rigid fixation with hardware such as plates and screws; however, complications can occur. The purpose of this study was to assess the surgical outcome after open reconstruction for craniosynostosis with less rigid fixation using nonabsorbable suture. METHODS: Retrospective review of patients who underwent open craniofacial reconstruction for craniosynostosis at the Hospital Kuala Lumpur between January 2011 and December 2016 were performed...
February 12, 2018: Journal of Craniofacial Surgery
James R Gilbert, Gwen M Taylor, Joseph E Losee, Mark P Mooney, Gregory M Cooper
OBJECTIVE: Craniosynostosis (CS) involves the premature fusion of one or more cranial sutures. The etiology of CS is complex and mutations in more than 50 distinct genes have been causally linked to the disorder. Many of the genes that have been associated with CS in humans play an essential role in tissue patterning and early craniofacial development. Among these genes are members of the Hedgehog (HH) and Notch signal transduction pathways, including the GLI family member Gli3, Indian Hedgehog ( Ihh), the RAS oncogene family member Rab23, and the Notch ligand JAGGED1 ( Jag1)...
March 2018: Cleft Palate-craniofacial Journal
Terri P McVeigh, Jonathan A Soye, Emma Gordon, Sally A Lynch
Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. Herein, we report a male infant with non-syndromic bilateral Type Vb ulnar longitudinal dysplasia with radiohumeral synostosis (apparent humeral bifurcation), and bilateral oligo-ectro-syndactyly who was born following an uncomplicated pregnancy, with no maternal use of prescription or illicit medication. Array CGH (60,000 probes) and chromosomal breakage analysis (DEB) were normal. Similar appearances have been reported in children exposed to thalidomide or cocaine, but sporadic patients have also been reported without a prior history of exposure to known teratogens...
February 10, 2018: American Journal of Medical Genetics. Part A
Tarek Elbanoby
BACKGROUND: The objective of this work is to present a review of all reports involving the management of unicoronal synostosis with distraction osteogenesis (DO). Also, we have innovated a new method in the treatment of cases of anterior plagiocephaly at a young age using DO. METHODS: We present a case in which anterior plagiocephaly was treated by DO of both metopic and hemicoronal sutures in a 4-month-old female patient. A comprehensive systematic literature review was completed using the search terms "distraction osteogenesis," "unicoronal synostosis," "anterior plagiocephaly," and "craniosynostosis...
February 7, 2018: Pediatric Neurosurgery
Motoko Nakasone, Satoshi Nakasone, Masaki Kinjo, Tsuyoshi Murase, Fuminori Kanaya
We reconstructed three-dimensional images of radius and ulna in 38 forearms of 25 patients with congenital proximal radioulnar synostosis from their computed tomographic studies. We also analysed correlations between the deformities of radius and ulna and degrees of fixed pronation of these forearms. The average ulnar deviation, flexion and internal rotation deformities of the radius were 6°, 3° and 18°, respectively. The average radial deviation, extension and internal rotation deformities of the ulna were 3°, 4° and 30°, respectively...
January 1, 2018: Journal of Hand Surgery, European Volume
Huaxiang Zhao, Xueyan Qin, Qian Zhang, Xinli Zhang, Jiuxiang Lin, Kang Ting, Feng Chen
NELL-1 is a secreted protein that was originally found to be upregulated in pathologically fusing and fused sutures in non-syndromic unilateral coronal synostosis patients. Apart from the ability of NELL-1 to promote osteogenesis in long and craniofacial bones, NELL-1 reportedly inhibits the formation of several benign and malignant tumors. We previously identified a novel transcript of Nell-1 that lacked a calcium-binding epidermal growth factor (EGF)-like domain compared with full-length Nell-1; this new transcript was named Nell-1-ΔE...
February 1, 2018: Journal of Cellular Biochemistry
James Sun, Netanja S Ter Maaten, Daniel M Mazzaferro, Ari M Wes, Sanjay Naran, Scott P Bartlett, Jesse A Taylor
PURPOSE: The aim of this study is to evaluate the effect of timing of surgery and spring characteristics on correction of scaphocephalic deformity in patients undergoing spring-mediated cranioplasty (SMC) for sagittal craniosynostosis. METHODS: The authors conducted a review of patients with sagittal craniosynostosis who underwent SMC at a tertiary referral center between July 2011 and March 2017, with a primary outcome measure of head shape, both preoperatively and postoperatively, determined by cephalic index (CI)...
January 19, 2018: Journal of Craniofacial Surgery
Christopher A Derderian
No abstract text is available yet for this article.
February 2018: Plastic and Reconstructive Surgery
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