keyword
https://read.qxmd.com/read/38372531/oral-and-dental-abnormalities-in-coffin-siris-syndrome-a-new-case-report
#1
JOURNAL ARTICLE
Afaf Houb-Dine, Hammouti Jalila, Fatima Zaoui, Asmae Benkaddour
INTRODUCTION: Coffin-Siris Syndrome (CSS) is a rare genetic disorder of unknown etiology. It combines digital-ungual abnormalities, facial dysmorphism, developmental and intellectual delay, and other organ-system abnormalities. Oral and dental anomalies are rarer. CASE REPORT: 8-year-old boy with clinical diagnosis of CSS presented facial dysmorphism, sparse hair, a flat and wide nose, absence of nails on 3rd and 5th fingers of the right hand and 3rd and 4th fingers of the left hand, malformation of the feet, toes with nail hypoplasia...
April 5, 2023: La Tunisie Médicale
https://read.qxmd.com/read/38321523/oral-findings-and-comprehensive-dental-management-of-moebius-syndrome-a-systematic-review
#2
JOURNAL ARTICLE
Mario Alberto Alarcón-Sánchez, Selenne Romero-Servin, Lazar Yessayan, Seyed Ali Mosaddad, Artak Heboyan
BACKGROUND: Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral and extraoral findings in MS patients and their comprehensive dental management. METHODS: A digital search was carried out in PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar, restricted to articles in English from Jan 01, 2000, to Apr 02, 2023, following PRISMA guidelines. The methodological quality of the studies was evaluated following the JBI guidelines...
February 6, 2024: BMC Oral Health
https://read.qxmd.com/read/38185723/bilateral-lipomatous-hamartoma-of-the-tongue-a-case-report-in-a-child-with-oral-facial-digital-syndrome-type-vi
#3
Aline Queiroz, Paulo Sérgio Souza Pina, Myrian Stella Paiva Novaes, Beatriz Dutra, Suzana Cantanhede Orsini Machado de Sousa, Luciane Hiramatsu Azevedo
A hamartoma is a benign proliferation of typical mature cells specific to a particular anatomical site. In the oral cavity, they may occur as isolated cases or be associated with genetic syndromes. Oral-facial-digital syndrome type VI is a rare genetic disorder with an estimated incidence of one in 50,000-250,000 newborns. Here, we report a case of a 2-year-old boy diagnosed with oral-facial-digital syndrome type VI who was referred for evaluation of a bilateral and normochromic to slightly pinkish nodule on the lateral surface of the tongue...
January 7, 2024: Special Care in Dentistry
https://read.qxmd.com/read/38158857/differential-alternative-splicing-analysis-links-variation-in-zrsr2-to-a-novel-type-of-oral-facial-digital-syndrome
#4
JOURNAL ARTICLE
Laurens Hannes, Marta Atzori, Alice Goldenberg, Jesús Argente, Tania Attie-Bitach, Jeanne Amiel, Catia Attanasio, Débora G Braslavsky, Ange-Line Bruel, Mireille Castanet, Christèle Dubourg, An Jacobs, Stanislas Lyonnet, Julian Martinez-Mayer, María Inés Pérez Millán, Nunziana Pezzella, Elise Pelgrims, Mio Aerden, Marijke Bauters, Anne Rochtus, Paula Scaglia, Ann Swillen, Alejandro Sifrim, Roberta Tammaro, Frederic Tran Mau-Them, Sylvie Odent, Christel Thauvin-Robinet, Brunella Franco, Jeroen Breckpot
PURPOSE: Oral-facial-digital (OFD) syndromes are genetically heterogeneous developmental disorders, caused by pathogenic variants in genes involved in primary cilia formation and function. We identified a previously undescribed type of OFD with brain anomalies, ranging from alobar holoprosencephaly to pituitary anomalies, in 6 unrelated families. METHODS: Exome sequencing of affected probands was supplemented with alternative splicing analysis in patient and control lymphoblastoid and fibroblast cell lines, and primary cilia structure analysis in patient fibroblasts...
December 26, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38139355/extraciliary-ofd1-is-involved-in-melanocyte-survival-through-cell-adhesion-to-ecm-via-paxillin
#5
JOURNAL ARTICLE
Nan-Hyung Kim, Chang Hoon Lee, Ai-Young Lee
Primary cilia play a significant role in influencing cell fate, including apoptosis in multiple cell types. In the lesional epidermis of vitiligo patients, a reduced number of ciliated cells was observed. Our study also revealed a downregulation of oral-facial digital syndrome type 1 (OFD1) in the affected skin of vitiligo patients. However, it remains unknown whether primary cilia are involved in the control of melanocyte apoptosis. While both intraflagellar transport 88 (IFT88) and retinitis pigmentosa GTPase regulator-interacting protein-1 like (RPGRIP1L) are associated with ciliogenesis in melanocytes, only the knockdown of OFD1 , but not IFT88 and RPGRIP1L , resulted in increased melanocyte apoptosis...
December 15, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37898820/ik-is-essentially-involved-in-ciliogenesis-as-an-upstream-regulator-of-oral-facial-digital-syndrome-ciliopathy-gene-ofd1
#6
JOURNAL ARTICLE
Hye In Ka, Mina Cho, Seung-Hae Kwon, Se Hwan Mun, Sora Han, Min Jung Kim, Young Yang
BACKGROUND: The cilia are microtubule-based organelles that protrude from the cell surface. Abnormalities in cilia result in various ciliopathies, including polycystic kidney disease (PKD), Bardet-Biedl syndrome (BBS), and oral-facial-digital syndrome type I (OFD1), which show genetic defects associated with cilia formation. Although an increasing number of human diseases is attributed to ciliary defects, the functions or regulatory mechanisms of several ciliopathy genes remain unclear...
October 28, 2023: Cell & Bioscience
https://read.qxmd.com/read/37823300/photoanthropometric-craniofacial-parameters-in-individuals-with-osteogenesis-imperfecta
#7
JOURNAL ARTICLE
F-F Marçal, L-L Lopes, F-W Costa, L-M Moreno, J-L Júnior, C-M Júnior, P-G Silva, E-M Ribeiro, C-S Fonteles, T-R Ribeiro
BACKGROUND: This study aimed to evaluate facial photoanthropometric parameters in patients with OI. MATERIAL AND METHODS: We selected 20 Brazilian patients diagnosed with OI treated at the Extension Service for Minors in Need of Specialized Treatment of the Dentistry Course at the Federal University of Ceará (Fortaleza, Brazil), of both sexes, without age restriction, and able to understand and sign the informed consent form (ICF). As a control group, 38 non-syndromic Brazilian individuals, categorized as ASA I, able to understand and sign the ICF, matched by sex, age, and Legan and Burstone facial profile were selected...
October 12, 2023: Medicina Oral, Patología Oral y Cirugía Bucal
https://read.qxmd.com/read/37780946/kleefstra-syndrome-dental-manifestations-and-needs-a-case-report-with-a-literature-review
#8
Victoria Karlak, Jakub Jankowski, Julia Kolasińska, Kacper Nijakowski
Kleefstra syndrome (KS) is a rare genetic disorder (prevalence < 1/1 000 000) characterised by autistic spectrum disorder (ASD), childhood hypotonia, and seizures. A typical facial appearance includes microcephaly, arched eyebrows, synophrism, hypertelorism, a short nose, midface hypoplasia, prognathism, and tongue protrusion. This case report presents a 19-year-old female with KS from a dentist's perspective. The patient demonstrates limited mouth opening with a slight deviation of the mandible on the left side...
2023: Case Reports in Dentistry
https://read.qxmd.com/read/37534339/neurofibromatosis-type-1-associated-plexiform-neurofibromas-of-the-face-and-adjacent-head-regions-topography-of-lesions-and-surgical-treatment-data-of-179-patients
#9
JOURNAL ARTICLE
Reinhard E Friedrich, Manuel Modemann
INTRODUCTION: Facial plexiform neurofibromas (FPNF) are rare tumors frequently diagnosed in patients with neurofibromatosis type 1 (NF1), a tumor predisposition syndrome. FPNF often grows invasively and destructively, which may complicate surgical treatment. Data on the frequency, location, and surgical procedures of patients with NF1-associated FPNF are scarce. This study provides treatment data from a nationally networked reference center for the treatment of NF1 patients. MATERIAL AND METHODS: The localization and treatment data of 179 NF1 patients with FPNF were analyzed...
September 2023: Journal of Maxillofacial and Oral Surgery
https://read.qxmd.com/read/37479388/oral-facial-digital-syndrome-type-1-the-kidney-cystic-disease-that-mimics-autosomal-dominant-polycystic-kidney-disease
#10
Leanna Ritchie, Roaa Zayat, Fouad T Chebib
No abstract text is available yet for this article.
August 2023: Kidney International
https://read.qxmd.com/read/37384395/pathogenic-rab34-variants-impair-primary-cilium-assembly-and-cause-a-novel-oral-facial-digital-syndrome
#11
JOURNAL ARTICLE
Ange-Line Bruel, Anil Kumar Ganga, Lenka Nosková, Irene Valenzuela, Jelena Martinovic, Yannis Duffourd, Marie Zikánová, Filip Majer, Stanislav Kmoch, Markéta Mohler, Jingbo Sun, Lauren K Sweeney, Núria Martínez-Gil, Christel Thauvin-Robinet, David K Breslow
Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogeneous disorders characterized by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in over twenty genes encoding ciliary proteins have been found to cause OFDS through deleterious structural or functional impacts on primary cilia. We identified by exome sequencing bi-allelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families...
June 29, 2023: Human Molecular Genetics
https://read.qxmd.com/read/37227088/topors-as-a-novel-causal-gene-for-joubert-syndrome
#12
JOURNAL ARTICLE
Alanna Strong, Hui-Qi Qu, Sinéad Cullina, Morgan L McManus, Elaine H Zackai, Joseph Glessner, Eimear E Kenny, Hakon Hakonarson
Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmental delay, and a distinct cerebellar malformation called the molar tooth sign. JBTS is inherited in an autosomal recessive, autosomal dominant, or X-linked recessive manner. Though over 40 genes have been identified as causal for JBTS, molecular diagnosis is not made in 30%-40% of individuals who meet clinical criteria. TOPORS encodes topoisomerase I-binding arginine/serine-rich protein, and homozygosity for a TOPORS missense variant (c...
May 25, 2023: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/37226222/touraine-solente-gole-syndrome-pathogenic-variant-in-slco2a1-presented-with-polyarthralgia-and-digital-clubbing
#13
JOURNAL ARTICLE
Rafaela Nicolau, Tiago Beirão, Francisca Guimarães, Francisca Aguiar, Sara Ganhão, Mariana Rodrigues, Ana Grangeia, Iva Brito
BACKGROUND: Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute Carrier Organic Anion Transporter Family Member 2A1 (SLCO2A1) genes. However, autosomal dominant transmission has also been described in some families with incomplete penetrance. PHO usually starts in childhood or adolescence, presenting with digital clubbing, osteoarthropathy, and pachydermia...
May 24, 2023: Pediatric Rheumatology Online Journal
https://read.qxmd.com/read/37095590/an-extremely-rare-case-of-oro-facial-digital-syndrome-a-case-report
#14
Shilpy Dwivedi, Arpita Thakur
BACKGROUND: Oro-facial digital(OFD) syndrome is a rare anomaly which is often missed out as just cleft lip and palate.It is an X-linked dominant condition with lethality in males. It however results from the pleotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits and it also includes lower IQ and mental retardation. 14 different variations of these syndrome can be seen with the majority of cases of type 1 and 2 based on characteristic clinical manifestations...
April 24, 2023: Special Care in Dentistry
https://read.qxmd.com/read/36973243/an-actin-filament-branching-surveillance-system-regulates-cell-cycle-progression-cytokinesis-and-primary-ciliogenesis
#15
JOURNAL ARTICLE
Muqing Cao, Xiaoxiao Zou, Chaoyi Li, Zaisheng Lin, Ni Wang, Zhongju Zou, Youqiong Ye, Joachim Seemann, Beth Levine, Zaiming Tang, Qing Zhong
Dysfunction of cell cycle control and defects of primary ciliogenesis are two features of many cancers. Whether these events are interconnected and the driving mechanism coordinating them remains elusive. Here, we identify an actin filament branching surveillance system that alerts cells of actin branching insufficiency and regulates cell cycle progression, cytokinesis and primary ciliogenesis. We find that Oral-Facial-Digital syndrome 1 functions as a class II Nucleation promoting factor to promote Arp2/3 complex-mediated actin branching...
March 27, 2023: Nature Communications
https://read.qxmd.com/read/36833254/autistic-behavior-as-novel-clinical-finding-in-ofd1-syndrome
#16
JOURNAL ARTICLE
Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir
Orofaciodigital syndrome I (OFD1-MIM #311200) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. OFD1 syndrome is an X-linked dominant disorder reported mostly in females. The gene responsible for this condition, OFD1 centriole and centriolar satellite protein ( OFD1 ), is involved in primary cilia formation and several cilia-independent biological processes. The functional and structural integrity of the cilia impacts critical brain development processes, explaining the broad range of neurodevelopmental anomalies in ciliopathy patients...
January 27, 2023: Genes
https://read.qxmd.com/read/36709942/-phenotypic-and-genetic-analysis-of-a-chinese-pedigree-affected-with-oral-facial-digital-syndrome
#17
JOURNAL ARTICLE
Qingqing Cheng, Wei Chu, Ping Huo, Zijia Shi, Zongpeng Zheng, Junxia Wang, Jian Gao
OBJECTIVE: To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with Oral-facial-digital syndrome type I (OFD1). METHODS: A pedigree with OFD1 who presented at Hebei General Hospital on March 17, 2021 was selected as the subject. Clinical data of the child was collected. Trio-whole exome sequencing (trio-WES) was carried out for the proband and members of her pedigree, and candidate variant was verified by Sanger sequencing. RESULTS: The proband has featured hypotelorism, broad nasal root, flat nasal tip, lobulated tongue, tongue neoplasia, camptodactyly of left fifth finger, syndactyly of right fourth and fifth fingers, and delayed intellectual and language development...
February 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/36567511/imaging-similarities-between-oral-facial-digital-syndrome-type-1-and-aicardi-syndrome-prenatal-and-postnatal-magnetic-resonance-imaging-mri-findings-in-4-patients
#18
JOURNAL ARTICLE
Charu Venkatesan, Elizabeth Countee, Beatrix Wong, Christine Spaeth, Beth M Kline-Fath, Usha D Nagaraj
Prenatal identification by magnetic resonance imaging (MRI) of callosal anomalies, particularly with accompanying intracranial abnormalities, poses a challenge for accurate prognostication and fetal counseling as outcome can vary widely depending on underlying etiology. In female patients, Aicardi syndrome is an important consideration, and prompt postnatal ophthalmologic assessment to identify ocular stigmata of Aicardi syndrome can aid with anticipatory guidance and greater vigilance for seizures. We present a case of a female with fetal and postnatal MRI findings of agenesis of corpus callosum and type 2b interhemispheric cysts, characteristically found in Aicardi syndrome, but was found to have oral-facial-digital syndrome type 1 (OFD1)...
December 25, 2022: Journal of Child Neurology
https://read.qxmd.com/read/36556156/dental-and-occlusal-changes-during-mandibular-advancement-device-therapy-in-japanese-patients-with-obstructive-sleep-apnea-four-years-follow-up
#19
JOURNAL ARTICLE
Eri Ishida, Ryo Kunimatsu, Cynthia Concepcion Medina, Koji Iwai, Sayumi Miura, Yuji Tsuka, Kotaro Tanimoto
Dentoskeletal changes caused by the long-term use of mandibular advancement devices (MADs) for obstructive sleep apnea (OSA) have rarely been investigated in Japan. We assessed the long-term dentofacial morphological changes in 15 Japanese patients with OSA who used two-piece MADs for an average of 4 years. Lateral cephalography analyses were performed initially and 4 years later (T1). The dental assessment included overjet, overbite, upper anterior facial height, lower anterior facial height (LAFH), total anterior facial height (TAFH), and anterior facial height ratio...
December 19, 2022: Journal of Clinical Medicine
https://read.qxmd.com/read/36409858/whole-exon-sequencing-and-correlation-analysis-of-a-14-month-old-girl-with-orofaciodigital-syndrome
#20
JOURNAL ARTICLE
Si L Li, Kong Y Li, Yong Q Wang
Orofaciodigital syndrome type 1 (OFDS1) is a genetic disorder characterized by specific oral, facial, and limb malformations. A 14-month-old girl with congenital cleft palate, lower lip midline cleft, and digital anomalies admitted to our hospital was preliminarily diagnosed with OFDS1. Genetic analysis revealed that she carried a heterozygous variant of OFD1 at locus Xp22.2 on the X chromosome. Herein, we present the specific phenotype and genotype and the treatment modalities for this patient and references for diagnosing and treating OFDS...
November 2022: Journal of Craniofacial Surgery
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