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https://www.readbyqxmd.com/read/28623672/craniosynostosis-recognition-clinical-characteristics-and-treatment
#1
REVIEW
Nina Kajdic, Peter Spazzapan, Tomaz Velnar
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. It usually occurs as an isolated condition, but may also be associated with other malformations as part of complex syndromes. When left untreated, craniosynostosis can cause serious complications, such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, anomalies affecting the eye, and psychological disturbances...
June 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28619674/frontal-cranioplasty-in-fronto-metaphyseal-dysplasia
#2
A Joly, A Pare, D Goga, B Laure
INTRODUCTION: Fronto-metaphyseal dysplasia (FMD), also called Gorlin-Cohen syndrome, is a rare syndrome initially described in 1969 by Gorlin and Cohen. Patients present skeletal dysplasia, craniofacial malformations and digit abnormalities. Craniofacial phenotype of FMD is characterized by supraorbital hyperostosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge and micrognathia. Here we report the first adult case of craniofacial reconstruction with frontal cranioplasty in a patient with FMD...
June 12, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28611422/bone-fusion-in-normal-and-pathological-development-is-constrained-by-the-network-architecture-of-the-human-skull
#3
Borja Esteve-Altava, Toni Vallès-Català, Roger Guimerà, Marta Sales-Pardo, Diego Rasskin-Gutman
Craniosynostosis, the premature fusion of cranial bones, affects the correct development of the skull producing morphological malformations in newborns. To assess the susceptibility of each craniofacial articulation to close prematurely, we used a network model of the skull to quantify the link reliability (an index based on stochastic block models and Bayesian inference) of each articulation. We show that, of the 93 human skull articulations at birth, the few articulations that are associated with non-syndromic craniosynostosis conditions have statistically significant lower reliability scores than the others...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28604380/microsurgical-scia-siea-flap-for-facial-contour-correction-in-patient-with-hemifacial-microsomia
#4
Andrea Battisti, Andrea Cassoni Cassoni, Davina Bartoli, Marco Della Monaca, Giorgio Barbera, Edoardo Cerbelli, Valentino Valentini
AIM: We propose our experience in soft tissue reconstruction in Hemifacial microsomia using a free fascioadiposal flap. MATERIAL OF STUDY: Hemifacial microsomia (HFM) is a congenital disorder characterized by craniofacial malformation of one or both sides of the lower face. A 18-year-old female presented with hemifacial microsomia involving the left side. A free SCIA/SIEA fascioadiposal flap was transferred to the left face for soft tissue augmentation. RESULTS: The immediate postoperative course of the patient was uneventful, with no complication and adequate augmentation in contour deformity was achieved...
2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28602263/immunohistochemical-and-histochemical-characterization-of-intraosseous-arteriovenous-malformations-of-the-jaws-analysis-of-16-cases-with-emphasis-on-glut-1-immunophenotype
#5
Reda Taleb, Ioannis G Koutlas, Prokopios P Argyris
OBJECTIVES: Intraosseous vascular lesions of the craniofacial region are rare and may cause diagnostic and therapeutic challenges. The purpose of this study was to characterize 16 cases of intraosseous arteriovenous malformations (AVMs) affecting the jaws. STUDY DESIGN: Immunohistochemical evaluation was performed using antibodies against α-smooth muscle actin (α-SMA), desmin, CD31, D2-40, and glucose transporter 1 (GLUT-1). Staining with elastic Verhoeff-Van Gieson and Masson trichrome histochemical stains was also performed...
April 25, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28585657/a-rare-case-of-monozygotic-iniodymic-diprosopiasis-in-a-german-holstein-calf
#6
Jim Weber, Holger Behn, Markus Freick
Craniofacial duplication abnormity is a rare phenomenon in buiatric practice. This report attends to a male German Holstein calf which could be classified as a diprosopic iniodymus. A fetus exhibiting a doubled face was delivered after fetotomy. To our knowledge, this is the first description of diprosopiasis with two cranial cavities as well as two separate encephala in a calf showing the potential extent of duplication. Throughout this work also the question is answered of whether this malformation in a bovine species arose from one embryo or rather, there is a dizygotic background by genotyping of tissue samples from both parts of the diprosopus...
June 1, 2017: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
https://www.readbyqxmd.com/read/28583755/prognostic-significance-of-an-antenatal-magnetic-resonance-imaging-staging-system-on-airway-outcomes-of-fetal-craniofacial-venolymphatic-malformations
#7
David T Schindel, Diane Twickler, Natalie Frost, Deryk Walsh, Patricia Santiago-Munoz, Romaine Johnson
BACKGROUND: The aim of the article was to determine if anatomical findings on fetal magnetic resonance imaging (MRI) of venolymphatic malformations of the face and neck (VLMFN) can be used to create a staging system predictive of airway outcomes. METHODS: We reviewed 13 fetuses evaluated for VLMFN. Stage was assigned based on anatomical findings on fetal MRI. Stage I: no evidence of polyhydramnios with free egress of amniotic fluid and clear visualization of the aryepiglottic folds and larynx...
May 11, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28567144/pretreatment-effect-of-folic-acid-on-13-cis-ra-induced-cellular-damage-of-developing-midfacial-processes-in-cultured-rat-embryos
#8
Rungarun Kriangkrai, Suconta Chareonvit, Sachiko Iseki, Visaka Limwongse
OBJECTIVE: Excess treatment of 13-cis-RA (Accutane(®)) on pregnant women induces craniofacial malformation found in infants. However, the effect of folic acid on 13-cis-RA-induced cellular damages of developing midfacial processes is still unknown. The purpose of this study was to investigate the pretreatment effect of folic acid (FA) on 13-cis-RA-induced cellular damage in developing midfacial processes in rat embryos. MATERIALS AND METHODS: The rat embryos at developing midfacial processes were performed by whole embryo culture in vitro, in the presence of 13-cis-RA (20 µM) with or without pre-treatment of FA (100 µM)...
2017: Open Dentistry Journal
https://www.readbyqxmd.com/read/28555453/-a-phenotypic-description-of-26-patients-with-ritscher-schinzel-syndrome-cranio-cerebello-cardiac-dysplasia-or-3c-syndrome
#9
S M Pira-Paredes, J H Montoya-Villada, J L Franco-Restrepo, M Moncada-Velez, J W Cornejo
INTRODUCTION: Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. PATIENTS AND METHODS: We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellin, in the Department of Antioquia, Colombia. RESULTS: Males account for 69% of this cohort...
June 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28550290/differential-methylation-is-associated-with-non-syndromic-cleft-lip-and-palate-and-contributes-to-penetrance-effects
#10
Lucas Alvizi, Xiayi Ke, Luciano Abreu Brito, Rimante Seselgyte, Gudrun E Moore, Philip Stanier, Maria Rita Passos-Bueno
Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this missing heritability. Using a Methylome-wide association study in a Brazilian cohort (67 NSCLP, 59 controls), we found 578 methylation variable positions (MVPs) that were significantly associated with NSCLP...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#11
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
June 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28496102/partial-microduplication-in-the-histone-acetyltransferase-complex-member-kansl1-is-associated-with-congenital-heart-defects-in-22q11-2-microdeletion-syndrome-patients
#12
Luis E León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, Gabriela M Repetto
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. Patients with the deletion present features that include neuropsychiatric problems, craniofacial abnormalities and cardiovascular malformations. However, the phenotype is highly variable and the factors related to the clinical heterogeneity are not fully understood. About 65% of patients with 22q11...
May 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28487785/pathogenic-variant-in-actb-p-arg183trp-causes-juvenile-onset-dystonia-hearing-loss-and-developmental-delay-without-midline-malformation
#13
Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W Klee, Pavel Pichurin
ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28483229/use-of-three-dimensional-cad-cam-assisted-virtual-surgical-simulation-and-planning-in-the-pediatric-craniofacial-population
#14
Rachel Gray, Alexander Gougoutas, Vinh Nguyen, Jesse Taylor, Nicholas Bastidas
OBJECTIVE: Virtual Surgical Planning (VSP) and computer-aided design/computer-aided manufacturing (CAD/CAM) have recently helped improve efficiency and accuracy in many different craniofacial surgeries. Research has mainly focused on the use in the adult population with the exception of the use for mandibular distractions and cranial vault remodeling in the pediatric population. This study aims to elucidate the role of VSP and CAD/CAM in complex pediatric craniofacial cases by exploring its use in the correction of midface hypoplasia, orbital dystopia, mandibular reconstruction, and posterior cranial vault expansion...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28468609/a-novel-trps1-mutation-in-a-moroccan-family-with-tricho-rhino-phalangeal-syndrome-type-iii-case-report
#15
W Smaili, S Chafai Elalaoui, S Meier, M Zerkaoui, A Sefiani, K Heinimann
BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation...
May 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28465847/prenatal-diagnosis-of-a-2-5%C3%A2-mb-de-novo-17q24-1q24-2-deletion-encompassing-kpna2-and-psmd12-genes-in-a-fetus-with-craniofacial-dysmorphism-equinovarus-feet-and-syndactyly
#16
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28450118/importance-of-deubiquitinases-in-zebrafish-craniofacial-development
#17
William Ka Fai Tse
Deconjugation of ubiquitin and/or ubiqutin-like modified substrates is essential to maintain a sufficient free ubiquitin within the cell. Deubiquitinases (DUBs) play a key role in the process. Besides, DUBs also play several important regulatory roles in cellular processes. However, our knowledge of their developmental roles are limited. The report here aims to study their potential roles in craniofacial development. Based on the previous genome-wide study in 2009, we selected 36 DUBs to perform the morpholino (MO) knockdown in this study, followed by the Alcian blue cartilage staining at 5 days post-fertilization (dpf) larvae to investigate the facial development...
June 10, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28439690/association-of-endotracheal-tube-repositioning-and-acute-laryngeal-lesions-during-mechanical-ventilation-in-children
#18
Denise Manica, Catia de Souza Saleh Netto, Cláudia Schweiger, Leo Sekine, Larissa Valency Enéas, Denise Rotta Pereira, Gabriel Kuhl, Paulo Roberto Antonacci Carvalho, Paulo José Cauduro Marostica
The objective of this study is to determine the incidence of post-extubation acute laryngeal lesions in a pediatric intensive care unit (PICU) and potential risk factors. Children, aged 28 days to 5 years, admitted to the PICU who required endotracheal intubation for at least 24 h were enrolled. Exclusion criteria were a previous intubation, history of laryngeal disease, current or past tracheostomy, the presence of craniofacial malformations and patients considered on palliative care. All patients underwent flexible fiber-optic laryngoscopy (FFL) not later than 8 h after extubation...
April 24, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28401166/hypodontia-an-update-on-its-etiology-classification-and-clinical-management
#19
REVIEW
Azza Husam Al-Ani, Joseph Safwat Antoun, William Murray Thomson, Tony Raymond Merriman, Mauro Farella
Hypodontia, or tooth agenesis, is the most prevalent craniofacial malformation in humans. It may occur as part of a recognised genetic syndrome or as a nonsyndromic isolated trait. Excluding third molars, the reported prevalence of hypodontia ranges from 1.6 to 6.9%, depending on the population studied. Most affected individuals lack only one or two teeth, with permanent second premolars and upper lateral incisors the most likely to be missing. Both environmental and genetic factors are involved in the aetiology of hypodontia, with the latter playing a more significant role...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28390612/the-results-of-newborn-hearing-screening-by-means-of-transient-otoacoustic-emissions-has-anything-changed-over-10-years
#20
Katarzyna Wroblewska-Seniuk, Grazyna Greczka, Piotr Dabrowski, Witold Szyfter, Jan Mazela
OBJECTIVES: Universal newborn hearing screening (UNHS) has become the standard of care in many countries. The aim of this study was to evaluate the results of UNHS after ten years of the program in Poland and to compare them with the results of 2003. METHODS: In the study, we analyze the results of UNHS in the University Hospital in Poznan, Poland. Between 01.01.2013 and 31.12.2013, 6827 children were examined by means of otoacoustic emissions. RESULTS: Risk factors (RF) were identified in 772 (11...
May 2017: International Journal of Pediatric Otorhinolaryngology
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