Portal Toolkit Invalid Site URL Pfeiffer syndrome, SaethreChotzen syndrome, Carpenter syndrome and Cohensyndrome (craniofrontonasal dysplasia) and many other eponymous conditions, http://ppv.ovid.com/pt/re/aunz/fulltext.00130494-200311000-00024.htm
Orthopaedic Syndromes First Page Craniofacialdeafness-hand syndrome craniofrontonasal dysplasia Craniometaphyseal dysplasia Craniosynostosis, Adelaide type Craniosynostosis, http://freeortho.com/syndromes.html
Extractions: Click on the syndromes for further details: A B C D ... H I J K L M ... P Q R S T U V W X Y Z OMIM Database ALL Syndromes - Clinical Features University of Western Ontario - Paediatric Database Gene maping and Other details: Achondrogenesis Ib Achondrogenesis-hypochondrogenesis, type II Achondroplasia Acrocallosal syndrome ... XLA and isolated growth hormone deficiency
Sydney Children's Hospital - Directory Of Services Craniofacial syndromes such as hemifacial microsomia, Treacher Collins, Binder,craniofrontonasal dysplasia, Down syndrome. Rare craniofacial clefts. http://www.sch.edu.au/services/services.asp?id=69
ABC-Dir: Php Nord NORD craniofrontonasal dysplasia (Popularity ) (Score 8.56) Offers a generaldiscussion and resources. Category Main\Health\Conditions and http://www.abc-directory.com/view/php_nord/
Extractions: Syndrome craniofrontonasal syndrome (CNFS) Synonyms craniofrontonasal dysostosis craniofrontonasal dysplasia (CFND) Summary Fontonasal dysplasia, coronal craniosynostosis, grooved nails, mild mental deficiency, and various skeletal and soft tissue abnormalities. Major Features Head and neck: Coronal suture synostosis, brachycephaly, frontal bossing, and facial asymmetry. Eyes: Soft tissue hypertelorism, increased bony interorbital distance and occasional strabismus, and downslanting palpebral fissures. Nose: Bifid nose with broad tip. Mouth and oral structures: Highly arched palate, cleft lip and/or palate, and malocclusion. Neck: Webbed. Thorax: Pectus excavatum. Abdomen: Diaphragmatic hernia. Hand and foot: Broad first toe, short first fingers, brachydactyly, clinodactyly, and gaps between the first and second toes, long fingers and toes. Transverse palmar crease is the main dermatoglyphic defect. Extremities: Sprengel shoulder, narrow sloping shoulders, hyperextensible joints Spine: Scoliosis.
The Cleft Palate-Craniofacial Journal craniofrontonasal dysplasia, Abstract Print Version. craniosynostosis,Abstract Print Version. craniosynostosis, Abstract Print Version http://cpcj.allenpress.com/cpcjonline/?request=get-keyword-index&issn=1545-1569&
The EyePathologist Disease - C craniofrontonasal dysplasia Klintworth, Gordon K. Craniofrontonasal syndrome -Klintworth, Gordon K. Craniopharyngioma - Klintworth, Gordon K. http://www.eyepathologist.com/LIST.ASP?Title=C
Craniofrontonasal Dysplasia Charles Davis is a Plastic, Reconstructive and CranioMaxillofacial Surgeon.He specialises in treating craniofacial malformations and complex ear and http://www.craniofacialsurgery.co.nz/craniofacial.html
Extractions: Also previously known as Cohen syndrome. A coronal craniosynostosis is present and this is treated in the first year of life. The eyes are widely spaced (hypertelorism) and this is corrected using a facial bipartition at about age 8. The maxillary occlusal plane is often convex and this is corrected concurrently. Frequently the nasal tip is very broad or bifid and this is also corrected.
Links: - Alabama Council For Developmental Disabilities Fibrous Dysplasia Support Online For those seeking support and information Costello Syndrome craniofrontonasal dysplasia Cri du Chat Syndrome http://www.acdd.org/Links/conditions/Rare_Disorders.htm
Extractions: On this page: Cherubs - A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. Contact a Family - Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK. Fibrous Dysplasia Support Online - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism. Human Growth Foundation - Information about growth-related disorders through education, research, and advocacy. Member driven organization. International Rare Disease Support Network - A community providing more than a 1000 different links to support groups for the people of all nations. Kindler Syndrome - An article and case study of this rare disease. Includes links. National Organization for Rare Disorders, Inc.
Clinical Genetics Congenital Pain Insensitivity@ (2); Cornelia De Lange Syndrome@ (2);Costello Syndrome (2); Cowden Syndrome (3); craniofrontonasal dysplasia (3) http://www.perinatology.com/genetics.htm
Extractions: Searchable listing of public health genetics policy documents and clinical genetics educational materials Information For Genetic Professionals University of Kansas Medical Center International Birth Defects Information Systems Online Mendelian Inheritance in Man OTIS Organization of Teratology Information Services Pediatric Database Description of pediatric conditions.
JustCan.com Disability Directory Costello Syndrome@ (2); craniofrontonasal dysplasia@ (3) Fibrous DysplasiaSupport Online - For those seeking support and information concerning http://directory.justcan.com/odpphp/odp.php?browse=/Health/Conditions_and_Diseas
D Lindhout Publications craniofrontonasal dysplasia genetic heterogeneity? (letter). Clin Genet 1984;2680.10. Lindhout D, Meinardi H. Spina bifida and inutero exposure to http://humgen.med.uu.nl/addresses/people/curriculum/Lindhout pubs.html
Extractions: Publications by D. Lindhout, M.D., Ph.D. CONTENTS I Articles in international peer-reviewed scientific journals II Articles in Dutch peer-reviewed journals III Chapters in books (English) IV Chapters in books (Dutch) ... VI Educational articles last updated October 2002 1. Lindhout D, Barth PG, Valk J, Boen-Tan TN.
Information Center For Rare Diseases And Orphan Drugs craniofaciocervical osteoglyphic dysplasia craniofrontonasal dysplasiacraniofrontonasal syndrome teebi type craniometaphyseal dysplasia dominant type http://www.raredis.org/modules/sections/index.php?op=printpage&artid=25
Extractions: From the Craniofacial Centre and the Division of Plastic Surgery at Children´s Hospital and the Department of Radiology at Massachusetts General Hospital, Harvard Medical School. PLASTIC AND RECONSTRUCTIVE SURGERY 2001;108:1316-1333 [Click here for reference links. (112 references linked.)] Fetal ultrasonography has made antenatal medicine possible, a specialized field that includes prenatal diagnosis, epidemiology, fetal therapy, and altered delivery strategies. Approximately 4 to 5 percent of newborns have some kind of structural anomaly, either a malformation, deformation, or disruption. The incidence of anomalies is even higher by examination of aborted embryos or by ultrasonic evaluation of fetuses that are eliminated through natural selection (terathanasia). It is tacitly believed that infants with a craniofacial deformity are best cared for by an interdisciplinary team. The same coordinated care should also be available for unborn children with the expertise of a specialist such as a sonologist, obstetrician, perinatologist, geneticist, and appropriate surgeon. Parents may ask for advice from a plastic surgeon before conception because one of them has a familial craniofacial anomaly. More often, the plastic surgeon is called to consult after a fetal abnormality is discovered by ultrasonography. The parents need counsel on the feasibility of operative correction, number of procedures, expected outcome, and quality of life issues.
Connexion Genatlas name, craniofrontonasal dysplasia with coronalcraniosynostosis,hypertelorism,clefting of the nasal tip,grooved nails,abnormalitiesof the thoracic http://www.dsi.univ-paris5.fr/genatlas/phenotype.php?symbol=CFNS
Fundación Comité Español De Los Colegios Del Mundo Unido Translate this page craniofrontonasal dysplasia associated with agenesis of Corpus Callosum.Pediatria Catalana, vol.63, 2003. Pg. 78-80. - Alonso PL, Sacarlal J, Aponte JJ, http://www.colegiosmundounido.org/lafundacion/CV4.htm
LOGOS Týp Yayýncýlýðý craniofrontonasal dysplasia is a rare Xlinked disorder that maps to 13cM regionon Xp22. Phenotypic features include craniosynostosis, brachiocephali, http://www.logos.com.tr/tr/p_sendrom44.asp
Extractions: Hasta bilgilendirmenin önemi, 17(5):36-53, 2005 Prof. Dr. M. Erdal Güzeldemir GATA Anesteziyoloji ve Reanimasyon Anabilim Dalý ÖZET SUMMARY Hipokrat'ýn; dürüst, güvenilir ve iyi niyetli; "Beyaz Gömlekli Tanrýlar'ý, hekimler, geliþen insanoðlunun bakýþ açýsýndaki önemli deðiþiklikler nedeni ile, günümüzde artýk o yüce makamýndan oldukça farklý bir düzeyde yerini almýþtýr. Temel insan haklarýndan olan, elde etmek için çok uzun uðraþýlar verilen bireyin kendi hakkýnda karar verme hakký "kendi kaderini belirleme hakký", günümüzde çok öncelikli bir konuma yerleþmiþtir. "Kendi kaderini belirleme hakký", hastanýn bilgilendirilerek, konu hakkýnda aydýnlatýlarak, kendisine tanýnan seçenekler arasýndan seçim yapabilmesine olanak tanýmaktadýr. Geliþmiþ toplumlarda çok önceleri baþlayan tartýþmalar ile, çok ileri düzeyde kazanýlan ve kurumsal tabana oturtulan haklar, yurdumuzda 1998 yýlýnda yürürlüðe giren Hasta Haklarý Yönetmeliði'yle güncelimize taþýnmýþ oldu; ''Hasta; saðlýk durumu, kendisine uygulanacak týbbi iþlemler, bunlarýn faydalarý ve muhtemel sakýncalarý, hastalýðýn seyri ve neticeleri konusunda sözlü veya yazýlý olarak bilgi istemek hakkýna sahiptir."
