59. Lateral Facial Clefts
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OCSHCN-10G, Medical Eligibility List for Clinical and Case Management Services.Pdf
OCSHCN-10g (01 2019) (Rev 7-15-2017) Office for Children with Special Health Care Needs Medical Eligibility List for Clinical and Case Management Services BODY SYSTEM ELIGIBLE DISEASES/CONDITIONS ICD-10-CM CODES AFFECTED AUTISM SPECTRUM Autistic disorder, current or active state F84.0 Autistic disorder DISORDER (ASD) F84.3 Other childhood disintegrative disorder Autistic disorder, residual state F84.5 Asperger’s Syndrome F84.8 Other pervasive developmental disorder Other specified pervasive developmental disorders, current or active state Other specified pervasive developmental disorders, residual state Unspecified pervasive development disorder, current or active Unspecified pervasive development disorder, residual state CARDIOVASCULAR Cardiac Dysrhythmias I47.0 Ventricular/Arrhythmia SYSTEM I47.1 Supraventricular/Tachycardia I47.2 Ventricular/Tachycardia I47.9 Paroxysmal/Tachycardia I48.0 Paroxysmal atrial fibrillation I48.1 Persistent atrial fibrillationar I48.2 Chronic atrial fibrillation I48.3 Typical atrial flutter I48.4 Atypical atrial flutter I49.0 Ventricular fibrillation and flutter I49.1 Atrial premature depolarization I49.2 Junctional premature depolarization I49.3 Ventricular premature depolarization I49.49 Ectopic beats Extrasystoles Extrasystolic arrhythmias Premature contractions Page 1 of 28 OCSHCN-10g (01 2019) (Rev 7-15-2017) Office for Children with Special Health Care Needs Medical Eligibility List for Clinical and Case Management Services I49.5 Tachycardia-Bradycardia Syndrome CARDIOVASCULAR Chronic pericarditis -
Oral Lesions in Leprosy
Study Oral lesions in leprosy Ana Paula Fucci da Costa, José Augusto da Costa Nery, Maria Leide Wan-del-Rey de Oliveira, Tullia Cuzzi,* Marcia Ramos-e-Silva Departments of Dermatology & *Pathology, HUCFF-UFRJ and School of Medicine, Federal University of Rio de Janeiro, Brazil. Address for correspondence: Marcia Ramos-e-Silva, Rua Sorocaba 464/205, 22271-110, Rio de Janeiro, Brazil. E-mail: [email protected] ABSTRACT Background: Leprotic oral lesions are more common in the lepromatous form of leprosy, indicate a late manifestation, and have a great epidemiological importance as a source of infection. Methods: Patients with leprosy were examined searching for oral lesions. Biopsies of the left buccal mucosa in all patients, and of oral lesions, were performed and were stained with H&E and Wade. Results: Oral lesions were found in 26 patients, 11 lepromatous leprosy, 14 borderline leprosy, and one tuberculoid leprosy. Clinically 5 patients had enanthem of the anterior pillars, 3 of the uvula and 3 of the palate. Two had palatal infiltration. Viable bacilli were found in two lepromatous patients. Biopsies of the buccal mucosa showed no change or a nonspecific inflammatory infiltrate. Oral clinical alterations were present in 69% of the patients; of these 50% showed histopathological features in an area without any lesion. Discussion: Our clinical and histopathological findings corroborate earlier reports that there is a reduced incidence of oral changes, which is probably due to early treatment. The maintenance of oral infection in this area can also lead to and maintain lepra reactions, while they may also act as possible infection sources. -
Ackerman's Tumour of Buccal Mucosa in a Leprosy Patient
Lepr Rev (2013) 84, 151–157 CASE REPORT Ackerman’s tumour of buccal mucosa in a leprosy patient MANU DHILLON*, RAVIPRAKASH S. MOHAN**, SRINIVASA M. RAJU***, BHUVANA KRISHNAMOORTHY* & MANISHA LAKHANPAL* *Department of Oral Medicine and Radiology, ITS Centre for Dental Studies and Research, Ghaziabad, India **Department of Oral Medicine and Radiology, Kothiwal Dental College and Research Centre, Moradabad, India ***Department of Oral Medicine and Radiology, Saraswati Dental College, Lucknow, India Accepted for publication 23 April 2013 Summary Leprosy (Hansen’s disease) is a chronic granulomatous disease caused by Mycobacterium leprae (Hansen’s bacillus). Oral manifestations occur in 20–60% of cases, usually in lepromatous leprosy, and are well documented. They may involve both the oral hard and soft tissues. Incidence of verrucous carcinoma/Ackerman’s tumour developing in anogenital region and plantar surfaces of feet in lepromatous leprosy has been sufficiently documented in the literature. However, association of oral verrucous carcinoma with lepromatous leprosy has not been established. We report for the first time a case of verrucous carcinoma of the buccal mucosa occurring in a leprotic patient, with brief review of literature on orofacial manifestations of leprosy. Introduction Leprosy (Hansen’s disease) is a chronic, contagious granulomatous disease caused by Mycobacterium leprae (Hansen’s bacillus). The disease presents polar clinical forms (the ‘multibacillary’ or lepromatous leprosy, and ‘paucibacillary’ or tuberculoid leprosy), -
Otocephaly: Agnathia-Microstomia-Synotia Syndrome Tanya Kitova1, Borislav D Kitov2
CASE REPORT Otocephaly: Agnathia-Microstomia-Synotia Syndrome Tanya Kitova1, Borislav D Kitov2 ABSTRACT The aim of the study is to present otocephaly, which is a rare congenital lethal malformation. Until this moment, only a little bit more than 100 cases worldwide were reported, and only 22 cases of prediagnosed otocephaly. Background: Otocephaly or agnathia-microstomia-synotia syndrome (SAMS) is characterized by agenesis of mandible (agnathia), disposition or fusion of the auricle (synotia), microstomia, and complete or partial lack of language (aglossia), which often ends up lethal. Case description: A 499.7 g male fetus was obtained after a therapeutic abortion during the 23rd gestational week at the Center for Maternity and Neonatology, Embryo-fetopathology Clinic, Tunis, Tunisia. The mother is an 18-year-old with close relative marriage with first-degree incest, primigravida. Examination of the fetus revealed microcephaly with craniosynostosis, hypertelorism, closed eyelid exophthalmos, one nostril, point microstomia, mandibular agenesis, bilateral, and auditory cysts of neck. The ears are located at the level of the neck. A study of the brain and the base of the skull revealed holoprosencephaly and sphenoid bone agenesis. There are no internal organ abnormalities. Conclusion: In cases where, at the end of the second trimester of pregnancy, polyhydramnios is detected, inability to visualize the mandible, and malposition of ears, otocephaly should be suspected. In these cases, the decision to interrupt pregnancy should be taken by a multidisciplinary team, after an magnetic resonance imaging, which is much better in visualizing location of the ears and other facial malformations and the presence of other associated anomalies. -
MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002
MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002 Michigan Department of Community Health Community Public Health Agency and Center for Health Statistics 3423 N. Martin Luther King Jr. Blvd. P. O. Box 30691 Lansing, Michigan 48909 Michigan Department of Community Health James K. Haveman, Jr., Director B-274a (March, 2002) Authority: P.A. 236 of 1988 BIRTH DEFECTS REGISTRY MICHIGAN DEPARTMENT OF COMMUNITY HEALTH BIRTH DEFECTS REGISTRY STAFF The Michigan Birth Defects Registry staff prepared this manual to provide the information needed to submit reports. The manual contains copies of the legislation mandating the Registry, the Rules for reporting birth defects, information about reportable and non reportable birth defects, and methods of reporting. Changes in the manual will be sent to each hospital contact to assist in complete and accurate reporting. We are interested in your comments about the manual and any suggestions about information you would like to receive. The Michigan Birth Defects Registry is located in the Office of the State Registrar and Division of Health Statistics. Registry staff can be reached at the following address: Michigan Birth Defects Registry 3423 N. Martin Luther King Jr. Blvd. P.O. Box 30691 Lansing MI 48909 Telephone number (517) 335-8678 FAX (517) 335-9513 FOR ASSISTANCE WITH SPECIFIC QUESTIONS PLEASE CONTACT Glenn E. Copeland (517) 335-8677 Cytogenetics Laboratory Reporting Instructions I. INTRODUCTION This manual provides detailed instructions on the proper reporting of diagnosed birth defects by cytogenetics laboratories. A report is required from cytogenetics laboratories whenever a reportable condition is diagnosed for patients under the age of two years. -
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Number 1 | January 2019 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct. -
Oral and Maxillofacial Medicine
7 38 207 e 1. Oral and maxillofacial diagnostics n i István Sonkodi 2. Developmental and genetic disorders c 3. Bacterial diseases i 4. Protozoan diseases d 5. Viral diseases e 6. Fungal diseases Oral and maxillofacial 7. Diseases of the lips l m 8. Tongue diseases (glossopathies) a medicine 9. Physical, chemical and iatrogenic harms i 10. Immune-based mucocutaneous diseases c 11. Granulomatous mucocutaneous diseases a f 12. Oral manifestation of systemic diseases o 13. Skin and mouth diseases in the orofacial region l l 14. Colour and pigmentation disorders of the skin and i mucous membrane x 15. Benign tumors a 16. Oral precancers and white lesions 17. Malignant oral tumors 18. Treatment of oral and maxillofacial diseases d m (manufacturer's products) 19. Differential diagnosis of oral and maxillofacial diseases n l a a r O ISBN 978 9879 48 5 Semmelweis Publisher 9 789639 879485 István Sonkodi Oral and maxillofacial medicine Diagnosis and treatment István Sonkodi Oral and maxillofacial medicine Diagnosis and treatment 5 Table of contents 1. ORAL AND MAXILLOFACIAL Peutz-Jeghers syndrome (plurioroficialis lentiginosis) 37 DIAGNOSTICS Sebaceus nevus (Jadassohn’s nevus) 38 Congenital epulis 38 Case history 15 Idiopathic gingival fibromatosis (Elephantiasis gingivae) 39 Preventive examinations 15 Fibrous developmental malformation and palatal torus 39 Detailed clinical examination 16 Primary lymphoedema (Nonne-Milroy’s disease) 40 Further examinations 19 Neurofibromatosis (Recklinghausen’s disease) 40 Epidermolysis bullosa 41 Basal cell -
Goldenhar Syndrome
ndrom Sy es tic & e G n e e n G e f Saxena and David, J Genet Syndr Gene Ther 2012, 3:2 T o Journal of Genetic Syndromes h l e a r n a DOI: 10.4172/2157-7412.1000113 r p u y o J & Gene Therapy ISSN: 2157-7412 Case Report Open Access Goldenhar Syndrome - A Rare Case Report Runjhun Saxena1* and Maria Priscilla David2 1Department of Oral Medicine and Radiology, Karnavati School of Dentistry, Uvarsad, Gandhinagar, Gujarat 382422, India 2Department of Oral Medicine and Radiology, M R Ambedkar Dental College,1/36 Cline Road, Cooke Town, Bangalore-05, India Abstract Goldenhar syndrome or oculo-auriculovertebral (OAV) is a rare abnormality affecting the craniofacial region having extracranial manifestations as well. First described by Maurice Goldenhar, its etiology still remains uncertain. We describes a case of Goldenhar syndrome with craniofacial manifestations which makes it amenable to diagnosis by an oral physician. Keywords: Goldenhar syndrome; Mandibular hypoplasia; • Hands / Fingers: clubbing, polydactyly, clinodactyly, single Periauricular tags; Corneal opacities palmar crease Introduction • Vertebral column anomalies (atlas occipitalization, synosto- sis, hemivertebrae, fused vertebrae, scoliosis, and bifid spine) Franceschetti-Goldenhar syndrome or Goldenhar syndrome, also [4]. known as facioauriculovertebral spectrum (FAV), first and second branchial arch syndrome, or oculo-auriculovertebral (OAV) spectrum Principal deformities of the Goldenhar syndrome are often is a rare congenital malformation which encompasses various combined with various malformations, such as: morphological and functional abnormalities. The syndrome was first • Cleft lip and/or palate, tongue cleft, unilateral tongue recorded by German physician Carl Ferdinand Von Arlt in 1845, hypoplasia, and parotid gland aplasia. -
Abstracts from the 51St European Society of Human Genetics Conference: Electronic Posters
European Journal of Human Genetics (2019) 27:870–1041 https://doi.org/10.1038/s41431-019-0408-3 MEETING ABSTRACTS Abstracts from the 51st European Society of Human Genetics Conference: Electronic Posters © European Society of Human Genetics 2019 June 16–19, 2018, Fiera Milano Congressi, Milan Italy Sponsorship: Publication of this supplement was sponsored by the European Society of Human Genetics. All content was reviewed and approved by the ESHG Scientific Programme Committee, which held full responsibility for the abstract selections. Disclosure Information: In order to help readers form their own judgments of potential bias in published abstracts, authors are asked to declare any competing financial interests. Contributions of up to EUR 10 000.- (Ten thousand Euros, or equivalent value in kind) per year per company are considered "Modest". Contributions above EUR 10 000.- per year are considered "Significant". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal Genetics then compared this data to de novo cases where research based PO studies were completed (N=57) in NY. E-P01.01 Results: MFSIQ (66.4) for familial deletions was Parent of origin in familial 22q11.2 deletions impacts full statistically lower (p = .01) than for de novo deletions scale intelligence quotient scores (N=399, MFSIQ=76.2). MFSIQ for children with mater- nally inherited deletions (63.7) was statistically lower D. E. McGinn1,2, M. Unolt3,4, T. B. Crowley1, B. S. Emanuel1,5, (p = .03) than for paternally inherited deletions (72.0). As E. H. Zackai1,5, E. Moss1, B. Morrow6, B. Nowakowska7,J. compared with the NY cohort where the MFSIQ for Vermeesch8, A. -
Prof. Samia El-Azab 2017
Prof. Samia El-Azab 2017 Developmental Disturbances of Oral and Para-oral tissues Intended Learning Outcomes (ILOs): By the end of these lectures every student will be able to: Recognize the normal development of oral and para-oral tissues Identify the developmental disturbances of oral and para-oral tissues Determine the pathogenesis of these developmental disturbances Describe the clinical significance of these developmental disturbances Normal development of face and lips: Nasal process descends from frontal bone forming 2 lateral nasal processes and one medial nasal process which is longer. Fusion occur between the lateral nasal processes and maxillary processes on both sides starting from the inner canthus of the eye and the median nasal process fuse with 2 maxillary process bilaterally to form the upper lip. The 2 mandibular process fuse in midline to form the lower lip. Developmental disturbances of the face I- Oblique facial cleft This is a developmental cleft start from the inner canthus of the eye to the ala of the nose or upper lip. It is due to failure of fusion between maxillary and lateral and medial nasal processes. It is usually unilateral but may be bilateral in about 20% of cases. II - Transverse facial cleft: This is a cleft running from the angle of the mouth towards the ear. It is due to failure of fusion between the maxillary and mandibular processes, and may be unilateral or bilateral, partial or complete (rare), extending from the angle of the mouth to the ear. III- Macrostomia and Microstomia: Macrostomia: it is an excessively large mouth. It is due to premature arrest of fusion between maxillary and mandibular processes bilaterally. -
Seminarium: Podstawy Dysmorfologii
The seminar: DYSMORPHOLOGY Tutor: Marzena Wisniewska, M.D., Ph.D. Dysmorphology – is the recognition and study of birth defects and syndromes. The term “dysmorphic” is used to describe children whose physical features are not usually found in a child of the same age or ethnic background. Some features are abnormal in all circumstances, e.g. premature fusion of the cranial sutures, whereas other features may be a non-significant familial trait, e.g. 2/3 toe syndactyly. Dysmorphology examination checklist: Growth parameters – according to centile charts: height, weight, upper limbs, lower limbs short stature gigantism – proportionate or disproportionate Anomalies: Macrosomia – too big stature Microsomia – too small stature Hemihypertrophy – asymmetric half of the body or a single limb Cranium OFC – occipital – frontal circumference symmetry cranial sutures fontanelle Anomalies: Microcephaly – abnormally small head, OFC < 3 SD Macrocephaly – abnormally large head Hydrocephalus – impared circulation and absorption of cerebrospinal fluid Craniostenosis – premature fusion of all sutures Craniosynostosis – premature fusion of one suture – change of skull shape: Scaphocephaly (dolicocephaly) – increased lenght compared to width of skull (saggital synostosis) Brachycephaly – flattening of the occiput with increased width compared to lenght of the skull (bilateral coronal synostosis) Plagiocephaly – asymmetry of the head shape (unilateral coronal or lambdoid synostosis) Trigonocephaly – the forehead assumes a triangular shape (metopic synostosis) -
Back Matter 611-642.Pdf
Index A Acrodysostosis, 527, 538 Aarskog syndrome, 527, 537 Acrofacial dysostosis 1, 580–581 differentiated from Opitz G/BBB Acrofacial dysplasia, 563 syndrome, 458 Acro-fronto-facio-nasal dysostosis Aase-Smith syndrome, 527 syndrome, 527, 538–539 Aase syndrome, 527, 537 Acromegaloid facial appearance Abducens nerve. See Cranial nerve VI syndrome, 527, 539 Abduction, Möbius sequence-related Acromegaloid phenotype-cutis verticis impairment of, 197, 198 gyrata-cornea leukoma, 527, 539 Abetalipoproteinemia, 527, 537 Acromesomelic dysplasia, Maroteaux- Ablepharon-macrostomia syndrome, Martinelli-Campailla type, 527, 527, 538 539 Abortion, spontaneous, chromosomal Acromicric dysplasia, 527, 539 abnormalities associated with, 83 Acro-osteolysis syndrome, 565 Abruzzo-Erickson syndrome, 527, 538 Acro-reno-ocular syndrome, 527, Acanthosis, 607 539 Acanthosis nigricans, Crouzon Acyclovir, 504, 505, 518 syndrome-related, 169 Adam complex, 207–209 Physician-parent interactions, Adams-Oliver syndrome, 527, 540 69–70 Adduction, Möbius sequence-related Acetyl-coenzyme A deficiency, 364 impairment of, 197, 198 N-Acetylcystine, 321 Adenoma sebaceum, tuberous sclerosis N-Acetyl galactosamine-4-sulfatase complex-related, 304, 308–309 deficiency, 366 Adrenocorticotropic hormone, 433 N-Acetyl galactosamine-6-sulfatase Aging, premature. See also Progeria deficiency, 357, 365 ataxia-telangiectasia-related, 320 a-N-Acetyl glucosaminidase acetyl Aglossia-adactyly syndrome, 584–585 transferase deficiency, 357 Agnathia-holoprosencephaly, 54 a-N-Acetyl glucosaminidase