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Craniofacial dysplasia

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https://www.readbyqxmd.com/read/28931105/neurofibromatosis-type-1-accompanied-by-craniofacial-pain-literature-review-and-descriptive-case
#1
Chunghwan Son, Ji Woon Park
Neurofibromatosis type 1 (NF-1) is a genetic disease with characteristic neurofibromas and bony dysplasia that manifest throughout the body, including the craniofacial region. NF-1 patients are known to frequently report chronic pain in areas below the head; however, the matter of pain in the craniofacial region in this patient group has not been handled intensively so far, and studies have mainly focused on headaches. This article comprehensively reviews the related literature and reports a case of an NF-1 patient whose chief complaint was headache and pain in the temporomandibular joint area...
September 20, 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28930929/avoidance-of-tracheostomy-using-mandibular-distraction-in-an-infant-with-severe-condylar-dysplasia-and-airway-obstruction
#2
Anthony J Archual, Jonathan S Black
Craniofacial microsomia (CFM) is a common craniofacial anomaly characterized by asymmetric malformation of the mandible, ear, and other structures including the upper airway. The degree of mandibular hypoplasia is classified using a scheme developed by Pruzansky and modified by Kaban. Severe condylar dysplasia is the hallmark of Pruzansky-Kaban types IIB and III. Distraction osteogenesis has emerged as a treatment modality for mandibular hypoplasia in this setting for the treatment of asymmetry and airway obstruction...
September 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28889021/maxillary-sinuses-and-midface-in-patients-with-cleidocranial-dysostosis
#3
Tomasz Kulczyk, Agnieszka Przystańska, Artur Rewekant, Renata Turska-Malińska, Agata Czajka-Jakubowska
The cleidocranial dysplasia is general skeletal disorder with an autosomal dominant inheritance. It is manifested by many craniofacial abnormalities, of which the maxillary hypoplasia is the most evident. The aim of the study was to use CBCT to evaluate the volume of the maxillary sinuses and the dimensions of maxillae in patients with CCD and compare them with healthy individuals. Files of four children with cleidocranial dysplasia were investigated. Volume of every maxillary sinus as well as two dimensional measurements of distances between particular points of interest located on surface of maxilla were calculated from reconstructed CBCT examination...
September 6, 2017: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/28840064/polyostotic-craniofacial-fibrous-dysplasia-with-bizarre-radiologic-finding-mandible-anterior-skull-base-frontal-temporal-parietal-and-occipital-bones-involvement
#4
Alireza Tabibkhooei, Morteza Taheri, Sadra Rohani, Alireza Azimi
No abstract text is available yet for this article.
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28839487/computed-tomography-in-craniofacial-fibrous-dysplasia-a-case-series-with-review-of-literature-and-classification-update
#5
REVIEW
Deepak Gupta, Preeti Garg, Amit Mittal
INTRODUCTION: Fibrous dysplasia (FD) is a fibroosseous lesion of the osseous structures of the body. It is not a commonly reported lesion yet it is considered as an important lesion which can affect the maxillofacial region as well. As a result, it can cause deformity of the jaw bones which can further lead to severe facial asymmetry. Craniofacial fibrous dysplasia (CFD) is one of the subtypes of FD that can affect the bones of the craniofacial complex, including the mandible and maxilla...
2017: Open Dentistry Journal
https://www.readbyqxmd.com/read/28796110/surgery-navigation-in-treating-congenital-midfacial-dysplasia-of-patients-with-facial-cleft
#6
Dong Li, Shanshan Bai, Zheyuan Yu, Liang Xu, Jie Yuan, Haisong Xu, Min Wei
AIM: To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. MATERIALS AND METHODS: Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients...
September 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28783116/teratogenic-effects-of-topiramate-in-a-zebrafish-model
#7
Yu-Heng Lai, Yu-Ju Ding, David Moses, Yau-Hung Chen
Topiramate is commonly used for treating epilepsy in both children and adults. Recent clinical data suggests that administration of topiramate to women during pregnancy increases the risk of oral clefts in their offspring. To better understand the potential effects of topiramate, we dosed adult female zebrafish with topiramate, and investigated the altered morphologies in adult females and their offspring. It showed that topiramate-treated female fish had reduced oocyte maturation, and the survival rates of their offspring were seriously decreased during embryogenesis...
August 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28768473/a-de-novo-missense-mutation-of-fgfr2-causes-facial-dysplasia-syndrome-in-holstein-cattle
#8
Jørgen S Agerholm, Fintan J McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. RESULTS: Seven malformed calves were submitted examination...
August 2, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28738834/the-value-of-99m-tc-methylene-diphosphonate-single-photon-emission-computed-tomography-computed-tomography-in-diagnosis-of-fibrous-dysplasia
#9
Linqi Zhang, Qiao He, Wei Li, Rusen Zhang
BACKGROUND: Fibrous dysplasia (FD) is a rare benign bone disorder in which the normal bone is replaced by immature fibro-osseous tissue. However, some case reports have reported that FD showed significantly increased (99m)Tc-methylene diphosphonate ((99m)Tc-MDP) uptake on whole-body bone scintigraphy (WBS), which may mimic bone metastasis or skeletal involvement of the patients with known cancer. Thus, the purpose of present study is to observe the reliable characteristics and usefulness of single photon emission computed tomography/computed tomography (SPECT/CT) for the diagnosis of FD...
July 24, 2017: BMC Medical Imaging
https://www.readbyqxmd.com/read/28706789/craniometaphyseal-dysplasia-a-review-and-novel-oral-manifestation
#10
K Martin, S Nathwani, R Bunyan
Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies. We present a case report on the management of a 63 year old female with Craniometaphyseal Dysplasia. This report describes an additional clinical manifestation of hypercementosis, which although well recognised in other sclerosing osseous dysplasias, is not reported in the literature for Craniometaphyseal Dysplasia. We discuss established in vivo studies in mice which link the genetic mutations found in Craniometaphyseal Dysplasia to hypercementosis, and how this report describes the same manifestation in humans...
May 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28705318/progressive-atrial-conduction-defects-associated-with-bone-malformation-caused-by-a-connexin-45-mutation
#11
Akiko Seki, Taisuke Ishikawa, Xavier Daumy, Hiroyuki Mishima, Julien Barc, Ryo Sasaki, Kiyomasa Nishii, Kayoko Saito, Mari Urano, Seiko Ohno, Saki Otsuki, Hiroki Kimoto, Alban-Elouen Baruteau, Aurelie Thollet, Swanny Fouchard, Stéphanie Bonnaud, Philippe Parent, Yosaburo Shibata, Jean-Philippe Perrin, Hervé Le Marec, Nobuhisa Hagiwara, Sandra Mercier, Minoru Horie, Vincent Probst, Koh-Ichiro Yoshiura, Richard Redon, Jean-Jacques Schott, Naomasa Makita
BACKGROUND: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. OBJECTIVES: The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. METHODS: The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes...
July 18, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28699175/long-term-health-outcomes-of-adults-with-mccune-albright-syndrome
#12
Sze Choong Wong, Margaret Zacharin
CONTEXT: McCune-Albright syndrome (MAS) is associated with numerous health problems. Comprehensive long-term health problems of adults with MAS are less well defined in the literature. OBJECTIVE: Our objective is to report comprehensive health outcomes of adults with MAS (>18 years). DESIGN: Retrospective case note review of 16 adults with MAS managed by one clinician. Results expressed as median (range). RESULTS: The study included 16 adults (seven males) with MAS...
July 12, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28689736/zebrafish-zic2-controls-formation-of-periocular-neural-crest-and-choroid-fissure-morphogenesis
#13
Irina Sedykh, Baul Yoon, Laura Roberson, Oleg Moskvin, Colin N Dewey, Yevgenya Grinblat
The vertebrate retina develops in close proximity to the forebrain and neural crest-derived cartilages of the face and jaw. Coloboma, a congenital eye malformation, is associated with aberrant forebrain development (holoprosencephaly) and with craniofacial defects (frontonasal dysplasia) in humans, suggesting a critical role for cross-lineage interactions during retinal morphogenesis. ZIC2, a zinc-finger transcription factor, is linked to human holoprosencephaly. We have previously used morpholino assays to show zebrafish zic2 functions in the developing forebrain, retina and craniofacial cartilage...
September 1, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28630177/integrated-genome-and-transcriptome-sequencing-identifies-a-noncoding-mutation-in-the-genome-replication-factor-donson-as-the-cause-of-microcephaly-micromelia-syndrome
#14
Gilad D Evrony, Dwight R Cordero, Jun Shen, Jennifer N Partlow, Timothy W Yu, Rachel E Rodin, R Sean Hill, Michael E Coulter, Anh-Thu N Lam, Divya Jayaraman, Dianne Gerrelli, Diana G Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M Jocelyne Martel, Betty Spooner, Steven C Ryu, Princess C Elhosary, Jillian M Richardson, Danielle Tierney, Christopher A Robinson, Rajni Chibbar, Dana Diudea, Rebecca Folkerth, Sheldon Wiebe, A James Barkovich, Ganeshwaran H Mochida, James Irvine, Edmond G Lemire, Patricia Blakley, Christopher A Walsh
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS)...
August 2017: Genome Research
https://www.readbyqxmd.com/read/28619674/frontal-cranioplasty-in-fronto-metaphyseal-dysplasia
#15
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/28555453/-a-phenotypic-description-of-26-patients-with-ritscher-schinzel-syndrome-cranio-cerebello-cardiac-dysplasia-or-3c-syndrome
#16
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/28468170/might-trauma-be-a-triggering-factor-for-craniofacial-fibrous-dysplasia
#17
Mehmet Onur Yüksel, Mehmet Sabri Gürbüz, Hilmi Onder Okay, Mehmet Esref Kabalar
Fibrous dysplasia (FD) is a rare, benign disease of unclear etiology where normal bone is replaced with abnormal fibrous and weak osseous tissue. Any bone of the skeleton might be involved but skull is one of the most commonly affected sites. Fibrous dysplasia is known to be caused by a genetic mutation leading to inappropriate proliferation and differentiation of osteoblastic cells. However; it is not known whether any triggering factor exists which might contribute to this genetic mutation. The authors postulated that trauma might be a triggering factor for this disease...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28453788/usage-of-dexamethasone-increases-the-risk-of-cranial-neural-crest-dysplasia-in-the-chick-embryo
#18
Xin Cheng, He Li, Yu Yan, Guang Wang, Zachary Berman, Manli Chuai, Xuesong Yang
Dexamethasone (Dex) is commonly used in the treatment of a variety of benign and malignant conditions. Unfortunately, although it has a variety of teratogenic effects, it remains used in clinical practice for pregnant women mainly due to limited alternatives. However, there is limited knowledge of the mechanisms that lead to the observed teratogenic effects. In this study, the effects of Dex during embryogenesis on neural crest development were evaluated in the early chick embryos. First, we demonstrated that 100µL 10-6 M Dex treatment leads to craniofacial developmental defects, and also retards embryo growth and plausibly can cause embryo demise...
April 27, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28369379/localized-twist1-and-twist2-basic-domain-substitutions-cause-four-distinct-human-diseases-that-can-be-modeled-in-caenorhabditis-elegans
#19
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...
June 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28365079/a-lateral-cephalometry-study-of-patients-with-neurofibromatosis-type-1
#20
Reinhard E Friedrich, Jan-Marten Lehmann, Jonathan Rother, Georg Christ, Christine Zu Eulenburg, Hannah T Scheuer, Hanna A Scheuer
PURPOSE: Neurofibromatosis type 1 (NF1) is an autosomal dominant transmitted tumour suppressor syndrome and also a bone disease. Osseous dysplasia affecting the craniofacial region is characteristic of NF1. The aim of this study was to analyse the lateral cephalograms of NF1 patients in comparison to individuals who were not affected by this condition in order to describe the skeletal phenotype of NF1 in more detail. MATERIALS AND METHODS: The study comprises the lateral cephalograms of 172 patients with established NF1 diagnoses (female = 85, male = 87)...
February 20, 2017: Journal of Cranio-maxillo-facial Surgery
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