DOCSLIB.ORG

ICD-10 Case Ascertainment Code List with Description (04/18/17)

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
ICD-10 Case Ascertainment Code List with Description (04/18/17) ICD-10 Case Ascertainment Code List with Description (04/18/17) A50.01 Early congenital syphilitic E25.0 Congenital adrenogenital M26.03 Mandibular hyperplasia oculopathy disorders associated with M26.04 Mandibular hypoplasia A50.02 Early congenital syphilitic enzyme deficiency osteochondropathy E25.8 Other adrenogenital disorders M26.09 Other specified anomalies of A50.03 Early congenital syphilitic jaw size E25.9 Adrenogenital disorder, P02.8 Newborn (suspected to be) pharyngitis unspecified affected by other A50.04 Early congenital syphilitic E29.8 Other testicular dysfunction pneumonia abnormalities of membranes A50.05 Early congenital syphilitic E78.71 Barth syndrome P35.0 Congenital rubella syndrome rhinitis E78.72 Smith-Lemli-Opitz syndrome P35.1 Congenital cytomegalovirus A50.06 Early cutaneous congenital E80.4 Gilbert's syndrome infection syphilis P35.2 Congenital herpesviral [herpes A50.07 Early mucocutaneous E80.5 Crigler-Najjar syndrome simplex] infection congenital syphilis E80.7 Disorder of bilirubin P35.3 Congenital viral hepatitis A50.08 Early visceral congenital metabolism, unspecified P37.0 Congenital tuberculosis syphilis G12.0 Infantile spinal muscular A50.09 Other early congenital atrophy, type i [werdnig- P37.1 Congenital toxoplasmosis syphilis, symptomatic hoffman] P37.2 Neonatal (disseminated) A50.1 Early congenital syphilis, G31.89 Other specified degenerative listeriosis latent diseases of nervous system P37.3 Congenital falciparum malaria A50.2 Early congenital syphilis, G52.7 Disorders of multiple cranial P37.4 Other congenital malaria unspecified nerves A50.30 Late congenital syphilitic G90.1 Familial dysautonomia (Riley- P37.8 Other specified congenital oculopathy, unspecified Day) infectious and parasitic A50.31 Late congenital syphilitic H30.90 Unspecified chorioretinal diseases interstitial keratitis inflammation, unspecified eye P59.1 Inspissated bile syndrome A50.32 Late congenital syphilitic H30.91 Unspecified chorioretinal P59.20 Neonatal jaundice from chorioretinitis inflammation, right unspecified hepatocellular A50.39 Other late congenital syphilitic H30.92 Unspecified chorioretinal damage oculopathy inflammation, left P59.29 Neonatal jaundice from other A50.40 Late congenital neurosyphilis, H30.93 Unspecified chorioretinal hepatocellular damage unspecified inflammation, bilat P95 Stillbirth A50.41 Late congenital syphilitic H35.52 Pigmentary retinal dystrophy meningitis P96.9 Condition originating in the A50.42 Late congenital syphilitic I42.4 Endocardial fibroelastosis perinatal period, unspecified encephalitis I82.0 Budd-Chiari syndrome Q00.0 Anencephaly A50.43 Late congenital syphilitic I89.8 Oth noninfective disorders of Q00.1 Craniorachischisis polyneuropathy lymphatic vessels and nodes Q00.2 Iniencephaly A50.44 Late congenital syphilitic optic K76.5 Hepatic veno-occlusive Q01.0 Frontal encephalocele nerve atrophy disease A50.49 Other late congenital M21.021 Valgus deformity, not Q01.1 Nasofrontal encephalocele neurosyphilis elsewhere classified, right Q01.2 Occipital encephalocele A50.59 Other late congenital syphilis, elbow symptomatic M21.022 Valgus deformity, not Q01.8 Encephalocele of other sites A50.7 Late congenital syphilis, elsewhere classified, left Q01.9 Encephalocele, unspecified unspecified elbow Q02 Microcephaly A50.9 Congenital syphilis, M21.029 Valgus deformity, not unspecified (Added 2016) elsewhere classified, Q03.0 Malformations of aqueduct of D18.02 Hemangioma of intracranial unspecified elbow Sylvius structures M21.121 Varus deformity, not Q03.1 Atresia of foramina of D18.03 Hemangioma of intra- elsewhere classified, right Magendie and Luschka abdominal structures elbow Q03.8 Other congenital D18.09 Hemangioma of other sites M21.122 Varus deformity, not hydrocephalus D18.1 Lymphangioma, any site elsewhere classified, left Q03.9 Congenital hydrocephalus, elbow unspecified D82.1 Di George's syndrome M21.129 Varus deformity, not Q04.0 Congenital malformations of E23.0 Hypopituitarism elsewhere classified, corpus callosum E23.6 Other disorders of pituitary unspecified elbow Q04.1 Arhinencephaly gland M26.00 Unspecified anomaly of jaw Q04.2 Holoprosencephaly size ICD-10 Case Ascertainment Code List with Description (04/18/17) Q04.3 Other reduction deformities Q10.3 Other congenital Q16.1 Congenital absence, atresia of brain malformations of eyelid and stricture of auditory canal Q04.4 Septo-optic dysplasia of brain Q10.4 Absence and agenesis of (external) lacrimal apparatus Q16.2 Absence of eustachian tube Q04.5 Megalencephaly Q10.6 Other congenital Q04.6 Congenital cerebral cysts Q16.3 Congenital malformation of malformations of lacrimal ear ossicles apparatus Q04.8 Other specified congenital Q16.4 Other congenital malformations of brain Q10.7 Congenital malformation of malformations of middle ear Q04.9 Congenital malformation of orbit Q16.5 Congenital malformation of brain, unspecified Q11.0 Cystic eyeball inner ear Q05.0 Cervical spina bifida with Q11.1 Other anophthalmos Q16.9 Congenital malformation of hydrocephalus ear causing impairment of Q11.2 Microphthalmos Q05.1 Thoracic spina bifida with hearing, unspecified hydrocephalus Q12.0 Congenital cataract Q17.1 Macrotia Q05.2 Lumbar spina bifida with Q12.1 Congenital displaced lens Q17.2 Microtia hydrocephalus Q05.3 Sacral spina bifida with Q12.2 Coloboma of lens Q17.3 Other misshapen ear hydrocephalus Q12.3 Congenital aphakia Q17.4 Misplaced ear Q05.4 Unspecified spina bifida with Q12.4 Spherophakia hydrocephalus Q17.5 Prominent ear Q05.5 Cervical spina bifida without Q12.8 Other congenital lens Q17.8 Other specified congenital hydrocephalus malformation malformations of ear Q05.6 Thoracic spina bifida without Q12.9 Congenital lens malformation, Q17.9 Congenital malformation of hydrocephalus unspecified ear, unspecified Q05.7 Lumbar spina bifida without Q13.0 Coloboma of iris Q18.0 Sinus, fistula and cyst of hydrocephalus Q13.1 Absence of iris branchial cleft Q05.8 Sacral spina bifida without Q18.2 Other branchial cleft Q13.2 Other congenital hydrocephalus malformations malformations of iris Q05.9 Spina bifida, unspecified Q18.4 Macrostomia Q13.3 Congenital corneal opacity Q06.0 Amyelia Q18.5 Microstomia Q13.4 Other congenital corneal Q06.1 Hypoplasia and dysplasia of malformations Q18.8 Other specified congenital spinal cord Q13.81 Rieger's anomaly malformations of face and Q06.2 Diastematomyelia neck Q13.89 Other congenital Q18.9 Congenital malformation of Q06.3 Other congenital cauda malformations of anterior face and neck, unspecified equina malformations segment of eye Q20.0 Common arterial trunk Q06.4 Hydromyelia Q13.9 Congenital malformation of Q06.8 Other specified congenital anterior segment of eye, Q20.1 Double outlet right ventricle malformations of spinal cord unspecified Q20.2 Double outlet left ventricle Q06.9 Congenital malformation of Q14.0 Congenital malformation of Q20.3 Discordant ventriculoarterial spinal cord, unspecified vitreous humor connection Q07.00 Arnold-Chiari syndrome Q14.1 Congenital malformation of Q20.4 Double inlet ventricle without spina bifida or retina hydrocepahlus Q14.2 Congenital malformation of Q20.5 Discordant atrioventricular Q07.01 Arnold-Chiari syndrome with optic disc connection spina bifida Q14.3 Congenital malformation of Q20.6 Isomerism of atrial Q07.02 Arnold-Chiari syndrome with choroid appendages (with asplenia or hydrocepahlus Q14.8 Other congenital polysplenia) Q07.03 Arnold-Chiari syndrome with malformations of posterior Q20.8 Other congenital spina bifida and segment of eye malformations of cardiac hydrocephalus Q14.9 Congenital malformation of chambers and connections Q07.8 Other specified congenital posterior segment of eye, Q20.9 Congenital malformation of malformations of nervous unspecified cardiac chambers and system Q15.0 Congenital glaucoma connections, unspecified Q21.0 Ventricular septal defect Q07.9 Congenital malformation of Q15.8 Other specified congenital nervous system, unspecified malformations of eye Q21.1 Atrial septal defect Q10.0 Congenital ptosis Q15.9 Congenital malformation of Q21.2 Atrioventricular septal defect Q10.1 Congenital ectropion eye, unspecified Q16.0 Congenital absence of (ear) Q21.3 Tetralogy of Fallot Q10.2 Congenital entropion auricle ICD-10 Case Ascertainment Code List with Description (04/18/17) Q21.4 Aortopulmonary septal defect Q25.3 Supravalvular aortic stenosis Q27.32 Arteriovenous malformation of vessel of lower limb Q21.8 Other congenital Q25.4 Other congenital malformations of cardiac malformations of aorta Q27.33 Arteriovenous malformation of digestive system vessel septa Congenital malformation of Q21.9 Congenital malformation of Q25.40 aorta unspecified Q27.34 Arteriovenous malformation cardiac septum, unspecified of renal vessel Q25.41 Absence and aplasia of aorta Q22.0 Pulmonary valve atresia Q27.39 Arteriovenous malformation, Q25.42 Hypoplasia of aorta other site Q22.1 Congenital pulmonary valve Q27.4 Congenital phlebectasia stenosis Q25.43 Congenital aneurysm of aorta Q27.8 Other specified congenital Q22.2 Congenital pulmonary valve Q25.44 Congenital dilation of aorta insufficiency malformations of peripheral Q25.45 Double aortic arch vascular system Q22.3 Other congenital malformations of pulmonary Q25.46 Tortuous aortic arch Q27.9 Congenital malformation of peripheral vascular system, valve Q25.47 Right aortic arch Q22.4 Congenital tricuspid stenosis unspecified Anomalous origin of Q28.0 Arteriovenous malformation Q22.5 Ebstein's anomaly Q25.48 subclavian artery of precerebral vessels Other
Load more

Recommended publications
  • Advances in the Pathogenesis and Possible Treatments for Multiple Hereditary Exostoses from the 2016 International MHE Conference
    Connective Tissue Research ISSN: 0300-8207 (Print) 1607-8438 (Online) Journal homepage: https://www.tandfonline.com/loi/icts20 Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference Anne Q. Phan, Maurizio Pacifici & Jeffrey D. Esko To cite this article: Anne Q. Phan, Maurizio Pacifici & Jeffrey D. Esko (2018) Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference, Connective Tissue Research, 59:1, 85-98, DOI: 10.1080/03008207.2017.1394295 To link to this article: https://doi.org/10.1080/03008207.2017.1394295 Published online: 03 Nov 2017. Submit your article to this journal Article views: 323 View related articles View Crossmark data Citing articles: 1 View citing articles Full Terms & Conditions of access and use can be found at https://www.tandfonline.com/action/journalInformation?journalCode=icts20 CONNECTIVE TISSUE RESEARCH 2018, VOL. 59, NO. 1, 85–98 https://doi.org/10.1080/03008207.2017.1394295 PROCEEDINGS Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference Anne Q. Phana, Maurizio Pacificib, and Jeffrey D. Eskoa aDepartment of Cellular and Molecular Medicine, Glycobiology Research and Training Center, University of California, San Diego, La Jolla, CA, USA; bTranslational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA ABSTRACT KEYWORDS Multiple hereditary exostoses (MHE) is an autosomal dominant disorder that affects about 1 in 50,000 Multiple hereditary children worldwide. MHE, also known as hereditary multiple exostoses (HME) or multiple osteochon- exostoses; multiple dromas (MO), is characterized by cartilage-capped outgrowths called osteochondromas that develop osteochondromas; EXT1; adjacent to the growth plates of skeletal elements in young patients.
    [Show full text]
  • Exostoses, Enchondromatosis and Metachondromatosis; Diagnosis and Management
    Acta Orthop. Belg., 2016, 82, 102-105 ORIGINAL STUDY Exostoses, enchondromatosis and metachondromatosis; diagnosis and management John MCFARLANE, Tim KNIGHT, Anubha SINHA, Trevor COLE, Nigel KIELY, Rob FREEMAN From the Department of Orthopaedics, Robert Jones Agnes Hunt Hospital, Oswestry, UK We describe a 5 years old girl who presented to the region of long bones and are composed of a carti- multidisciplinary skeletal dysplasia clinic following lage lump outside the bone which may be peduncu- excision of two bony lumps from her fingers. Based on lated or sessile, the knee is the most common clinical examination, radiolographs and histological site (1,10). An isolated exostosis is a common inci- results an initial diagnosis of hereditary multiple dental finding rarely requiring treatment. Disorders exostosis (HME) was made. Four years later she developed further lumps which had the radiological associated with exostoses include HME, Langer- appearance of enchondromas. The appearance of Giedion syndrome, Gardner syndrome and meta- both exostoses and enchondromas suggested a possi- chondromatosis. ble diagnosis of metachondromatosis. Genetic testing Enchondroma are the second most common be- revealed a splice site mutation at the end of exon 11 on nign bone tumour characterised by the formation of the PTPN11 gene, confirming the diagnosis of meta- hyaline cartilage in the medulla of a bone. It occurs chondromatosis. While both single or multiple exosto- most frequently in the hand (60%) and then the feet. ses and enchondromas occur relatively commonly on The typical radiological features are of a well- their own, the appearance of multiple exostoses and defined lucent defect with endosteal scalloping and enchondromas together is rare and should raise the differential diagnosis of metachondromatosis.
    [Show full text]
  • Massachusetts Birth Defects 2002-2003
    Massachusetts Birth Defects 2002-2003 Massachusetts Birth Defects Monitoring Program Bureau of Family Health and Nutrition Massachusetts Department of Public Health January 2008 Massachusetts Birth Defects 2002-2003 Deval L. Patrick, Governor Timothy P. Murray, Lieutenant Governor JudyAnn Bigby, MD, Secretary, Executive Office of Health and Human Services John Auerbach, Commissioner, Massachusetts Department of Public Health Sally Fogerty, Director, Bureau of Family Health and Nutrition Marlene Anderka, Director, Massachusetts Center for Birth Defects Research and Prevention Linda Casey, Administrative Director, Massachusetts Center for Birth Defects Research and Prevention Cathleen Higgins, Birth Defects Surveillance Coordinator Massachusetts Department of Public Health 617-624-5510 January 2008 Acknowledgements This report was prepared by the staff of the Massachusetts Center for Birth Defects Research and Prevention (MCBDRP) including: Marlene Anderka, Linda Baptiste, Elizabeth Bingay, Joe Burgio, Linda Casey, Xiangmei Gu, Cathleen Higgins, Angela Lin, Rebecca Lovering, and Na Wang. Data in this report have been collected through the efforts of the field staff of the MCBDRP including: Roberta Aucoin, Dorothy Cichonski, Daniel Sexton, Marie-Noel Westgate and Susan Winship. We would like to acknowledge the following individuals for their time and commitment to supporting our efforts in improving the MCBDRP. Lewis Holmes, MD, Massachusetts General Hospital Carol Louik, ScD, Slone Epidemiology Center, Boston University Allen Mitchell,
    [Show full text]
  • (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation
    Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C Bovée, J.V.M.G.; Rozeman, L.B.; Sangiorgi, L.; Briaire-de Bruijn, I.H.; Mainil-Varlet, P.; Bertoni, F.; ... ; Hogendoorn, P.C.W. Citation Bovée, J. V. M. G., Rozeman, L. B., Sangiorgi, L., Briaire-de Bruijn, I. H., Mainil-Varlet, P., Bertoni, F., … Hogendoorn, P. C. W. (2004). Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C. Human Mutation, 24, 466-473. Retrieved from https://hdl.handle.net/1887/8144 Version: Not Applicable (or Unknown) License: Downloaded from: https://hdl.handle.net/1887/8144 Note: To cite this publication please use the final published version (if applicable). HUMAN MUTATION 24:466^473 (2004) RAPID COMMUNICATION Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C Leida B. Rozeman,1 Luca Sangiorgi,2 Inge H. Briaire-de Bruijn,1 Pierre Mainil-Varlet,3 F. Bertoni,4 Anne Marie Cleton-Jansen,1 Pancras C.W. Hogendoorn,1 and Judith V.M.G. Bove´e1* 1Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands; 2Laboratory of Oncology Research, Rizzoli Orthopedic Institute, Bologna, Italy; 3Institute of Pathology, University of Bern, Bern, Switzerland; 4Department of Pathology, Rizzoli Orthopedic Institute, Bologna, Italy Communicated by Arnold Munnich Enchondromatosis (Ollier disease, Maffucci syndrome) is a rare developmental disorder characterized by multiple enchondromas. Not much is known about its molecular genetic background. Recently, an activating mutation in the parathyroid hormone receptor type 1 (PTHR1) gene, c.448C>T (p.R150C), was reported in two of six patients with enchondromatosis.
    [Show full text]
  • Evolution of Morphology: Modifications to Size and Pattern
    Evolution of Morphology: Modifications to Size and Pattern The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters Citation Uygur, Aysu N. 2014. Evolution of Morphology: Modifications to Size and Pattern. Doctoral dissertation, Harvard University. Citable link http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274611 Terms of Use This article was downloaded from Harvard University’s DASH repository, and is made available under the terms and conditions applicable to Other Posted Material, as set forth at http:// nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of- use#LAA Evolution of Morphology: Modifications to Size and Pattern A dissertation presented by Aysu N. Uygur to The Division of Medical Sciences in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the subject of Genetics Harvard University Cambridge, Massachusetts May, 2014 iii © 2014 by Aysu N. Uygur All Rights Reserved iv Dissertation Advisor: Dr. Clifford J. Tabin Aysu N. Uygur Evolution of Morphology: Modifications to Size and Pattern Abstract A remarkable property of developing organisms is the consistency and robustness within the formation of the body plan. In many animals, morphological pattern formation is orchestrated by conserved signaling pathways, through a process of strict spatio-temporal regulation of cell fate specification. Although morphological patterns have been the focus of both classical and recent studies, little is known about how this robust process is modified throughout evolution to accomodate different morphological adaptations. In this dissertation, I first examine how morphological patterns are conserved throughout the enourmous diversity of size in animal kingdom.
    [Show full text]
  • Resection of Cervical Juxtacortical Chondroma and Circumferential Spinal Stabilization for Kyphotic Deformity
    Open Access Case Report DOI: 10.7759/cureus.4523 Resection of Cervical Juxtacortical Chondroma and Circumferential Spinal Stabilization for Kyphotic Deformity J. Manuel Sarmiento 1 , Omar Medina 2 , Angelique Sao-Mai S. Do 1 , Shimon Farber 3 , Ray M. Chu 1 1. Neurosurgery, Cedars-Sinai Medical Center, Los Angeles, USA 2. Orthopedic Surgery, Harbor-University of California Los Angeles Medical Center, Los Angeles, USA 3. Pathology, Cedars-Sinai Medical Center, Los Angeles, USA Corresponding author: J. Manuel Sarmiento, [email protected] Abstract Chondromas are rare, benign tumors composed of cartilaginous tissue that mainly affect the metaphases of long tubular bones. Juxtacortical (periosteal) chondromas arise from the surface of periosteum and rarely affect the cervical spine. We present a patient with a spinal juxtacortical chondroma causing spinal cord compression and a cervical deformity treated with surgical resection and circumferential spinal fixation and stabilization. A 55-year-old female with past medical history of Crohn’s disease with years of neck pain, balance issues, and left upper extremity radicular symptoms. Cervical spine x-rays show kyphosis with an apex at C5, degenerative changes of the endplates and facet joints, and grade 2 anterolisthesis C4 on C5 with no abnormal motion with flexion/extension. MRI showed a left sided C5-6 extramedullary mass measuring 11 x 11 x 15 mm causing spinal cord compression and neural foraminal narrowing. Her pain is worsening and refractory to physical therapy, gabapentin and methocarbamol. A C4-5 & C5-6 anterior cervical discectomy and fusion, C4-5 & C5-6 laminectomy for tumor resection, and C4-5 & C5-6 posterior fusion with instrumentation was performed.
    [Show full text]
  • Orphanet Journal of Rare Diseases Biomed Central
    Orphanet Journal of Rare Diseases BioMed Central Review Open Access Ollier disease Caroline Silve*1 and Harald Jüppner2 Address: 1INSERM U. 773, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, 75018 Paris, France and 2Endocrine Unit, Department of Medicine, and Pediatric Neprology Unit, MassGeneral Hospital for Children, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA Email: Caroline Silve* - [email protected]; Harald Jüppner - [email protected] * Corresponding author Published: 22 September 2006 Received: 31 July 2006 Accepted: 22 September 2006 Orphanet Journal of Rare Diseases 2006, 1:37 doi:10.1186/1750-1172-1-37 This article is available from: http://www.OJRD.com/content/1/1/37 © 2006 Silve and Jüppner; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery). Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma.
    [Show full text]
  • Pitfalls of Genetic Counselling in Pfeiffer's Syndrome
    J Med Genet: first published as 10.1136/jmg.17.4.250 on 1 August 1980. Downloaded from Journal ofMedical Genetics, 1980, 17, 250-256 Pitfalls of genetic counselling in Pfeiffer's syndrome M BARAITSER,* MARY BOWEN-BRAVERY, AND P SALDANA-GARCIA From the Kennedv-Galton Centre for Clinical Genetics, Harperbury Hospital, Harper Lane, Shenley, Radlett, Herts WD7 9HQ SUMMARY A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosynd:ctyfy syndrome. The acrocephalosyndactyly syndromes are a group a fourth entity with features of both Apert's and of hereditary disorders which manifest with anoma- Crouzon's syndrome.' The acrocephalic syndrome of lies of the cranium, hands, and feet. As with other Carpenter can be distinguished because of the dominantly inherited syndromes the clinical picture presence ofpolydactyly.2 Others have documented the varies considerably and this has led to conflicting presence of Apert's, Pfeiffer's, and transitional views about the classification of the acrocephalies. syndromes in multiple generations of the same family Most authors recognise Apert's, Pfeiffer's and suggesting that the subdivision is spurious.3-5 The Chotzen's syndromes and there is uncertainty about variable expression and improvement of the cranio- facial deformities with age has also led to difficulties *Also at the Division of Inherited Metabolic Diseases, in detecting minimal manifestations, thereby in- Clinical Research Centre, Northwick Park Hospital, Watford creasing the possibility of missing gene carriers and Road, Harrow, Middlesex HAl 3UJ.
    [Show full text]
  • The Physis: Fundamental Knowledge to a Fantastic Future Through Research
    Special Contribution The Physis: Fundamental Knowledge to a Fantastic Future Through Research Proceedings of the AAOS/ORS Symposium Written By: Matthew A. Halanski, MD and Maegen J. Wallace, MD; Children’s Hospital & Medical Center, Omaha, NE Contributors: Ernestina Schipani, MD, PhD; Henry Kronenberg, MD; Rosa Serra, PhD; Ola Nilsson, MD, PhD; Klane White, MD; Michael Bober, MD; Benjamin Alman, MD; Daniel Hoernschemeyer, MD; Francesco De Luca, MD; Jan-Maarten Wit, MD, PhD; Ken Noonan, MD; Neil Paloian, MD; David Deyle, MD; Shawn Gilbert, MD; Sanjeev Sabharwal, MD; Peter Stevens, MD; Jonathan Schoenecker, MD, PhD; Noelle Larson, MD; Todd Milbrandt, MD; Wan-Ju Li, PhD Introduction A proposal to the AAOS on behalf of the POSNA Education Committee (Chair Ken Noonan, MD), the AAOS, ORS, and NIH via an R13 grant mechanism, was supported to conduct a multidisciplinary symposium that discussed the current understanding of the growth plate, its pathology, state-of-the-art treatments, and future research directions. Never before on U.S. soil has an event like this transpired. The symposium was chaired by Drs. Matthew A. Halanski and Todd Milbrandt. The goals of the symposium were to: 1. Educate attendees on the current multidisciplinary knowledge of normal bone growth and development 2. Highlight various causes of abnormal growth and discuss available treatments and future possibilities 3. Identify key areas of focused research and establish multidisciplinary collaborations In addition to formal didactic sessions, interactive discussions and networking opportunities were provided to allow cross pollination and collaborations between orthopaedic surgeons and other experts. More than 20 basic science and clinical faculty with expertise in biomedical engineering, cellular biology, developmental biology, endocrinology, genetics and gene therapy, molecular biology, nephrology, orthopaedic surgery, pediatrics, and stem cell technology, participated in the event.
    [Show full text]
  • Life Is Full of Miracles by Jeannie Ewing Director Retreat Sponsors
    THIS ISSUE OF THE CCA NETWORK IS DEDICATED IN MEMORY OF ASHLEY BARCROFT & PHOENIX COLEMAN ccanewsletter of the children’s craniofacialnetwork association Cher—national spokesperson 2014: Issue 2 inside cca kid ian bibler . 2 cca adult jessica barbalaci . 3 cca supersib eli bibler . 4 morgan meck’s match play . 5, 14 horseheads, ny . 10 all the way for cca . 11 message testimonial . 12 calendar of events . 12 from the ucf: awareness for program social change . 13 life is full of miracles By Jeannie Ewing director retreat sponsors . 15 wonder t-shirts . 15 arah has always been somewhat of a medical marvel; an you believe the sadie’s night seven the events leading up to and surrounding her cretreat is already over? at the ball park . 18 birth have left many people at the very least speechless Time sure does fly when stormbringer for and more often riveted and enraptured by her little life you are having fun! The stephanie sumpter . 19 that is still unfolding each day . She was born with Apert 24th Annual Cher’s Family craniofacial acceptance syndrome, but, like most parents who have children with Retreat was held in St . Louis, month . 19 varying forms of craniosynostosis, we were oblivious to Missouri June 26th through any sort of red flags concerning her development, at least state assistance . .. 19 29th, and was officially the prenatally . largest retreat to date! more fundraising news . 20 I quickly dismissed the idea of prenatal testing when given One hundred thirteen how to raise funds the opportunity by my family doctor during one of my later families attended from for cca .
    [Show full text]
  • Genetic Study of Congenital Heart Defects In
    8585 JMed Genet 1994;31:858-863 Genetic study of congenital heart defects in Northern Ireland (19741978) J Med Genet: first published as 10.1136/jmg.31.11.858 on 1 November 1994. Downloaded from E Jennifer Hanna, Norman C Nevin, John Nelson Abstract echocardiography, have been able to diagnose Congenital heart defects are a major con- lesions more accurately by non-invasive means. genital abnormality and are assuming The aim of this study, which allowed a follow increasing importance. A study was up period of 6 to 10 years (1979-1984), was to undertaken to estimate the incidence of obtain an accurate estimate of the incidence of congenital heart defects in Northern CHD in Northern Ireland. It included the total Ireland over a five year period (1974-1978), live- and stillbirth population over a five year to determine the age at diagnosis and to period (1974-1978) but unfortunately echocar- assess the risk of recurrence in sibs. An diography was not available for all patients incidence rate of 7-3 per 1000 total births during the period of study. was found. This reduced to 3-1 per 1000 Previous studies346"' 1-14 have shown a recur- total births if only invasive methods of rence risk in sibs varying from 1 4% to 3 4%. diagnosis (catheter studies, surgery, or To ascertain the recurrence risk in Northern necropsy) were considered. The overall Ireland, selected families identified by the risk of recurrence for sibs (excluding in- incidence study were examined in greater de- dex patients with chromosomal abnor- tail. In addition it was decided to look at the age malities and syndromes) was 3-1%.
    [Show full text]
  • Teratology Primer Birth Defects Research LOGY SO to C a IE R T
    Teratology Primer Birth Defects Research LOGY SO TO C A IE R T E Y T B Education i r h t c h r a de se fects re Prevention Authors Teratology Primer Sura Alwan F. Clarke Fraser Department of Medical Genetics Professor Emeritus of Human Genetics University of British Columbia McGill University Vancouver, BC V6H 3N1 Canada Montreal, QC H3A 1B1 Canada E-mail: [email protected] E-mail: [email protected] Steven B. Bleyl Jan M. Friedman Department of Pediatrics University of British Columbia University of Utah School of Medicine C.201 BCCH-Shoughnessy Site Salt Lake City, UT 84132-0001 USA 4500 Oak Street E-mail: [email protected] Vancouver, BC V6H 3N1 Canada E-mail: [email protected] Robert L. Brent Thomas Jefferson University Adriane Fugh-Berman Alfred I. duPont Hospital for Children Department of Physiology and Biophysics P.O. Box 269 Georgetown University Medical Center Wilmington, DE 19899 USA Box 571460 E-mail: [email protected] Washington, DC 20057-1460 USA E-mail: [email protected] Christina D. Chambers Departments of Pediatrics and Family and John M. Graham, Jr. Preventive Medicine Director of Clinical Genetics and Dysmorphology University of California at San Diego Cedars Sinai Medical Center School of Medicine 8700 Beverly Blvd., PACT Suite 400 9500 Gilman Dr., Mail Code 0828 Los Angeles, CA 90048 USA La Jolla, CA 92093-0828 USA E-mail: [email protected] E-mail: [email protected] Barbara F. Hales* George P. Daston Department Pharmacology and Therapeutics Procter & Gamble Company McGill University Miami Valley Laboratories 3655 Prom.
    [Show full text]