81. Shprintzen-Goldberg Syndrome: Case Report 433–436. shprintzenGoldberg syndrome Case Report. Objective The shprintzen-Goldbergsyndrome is an extremely rare syndrome with a characteristic face. http://cpcj.allenpress.com/cpcjonline/?request=get-abstract&doi=10.1597/1545-156

82. Congenital, Hereditary, And Neonatal Diseases And Abnormalities KIB (SE). About Cat Eye syndrome OMIM. Velo-Cardio-Facial / shprintzen/ syndrome Links - Family Village/Wisconsin (US). Velo-Cardio http://www.mic.ki.se/Diseases/C16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [P Murphy] GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

83. References: Velo-cardio-facial Syndrome BeemerFA,MeineckeP,SchinzelA,The velocardio-facial (shprintzen) syndromeclinical variability in eight patients Eur J Pediatr145539-544 (1986); http://www.hgmp.mrc.ac.uk/lddb-bin/ref-look-up?1762

84. Abstract: Velo-cardio-facial Syndrome Microdeletions of 22q11 have been seen in patients with DiGeorge syndrome, velocardio-facial(shprintzen) syndrome, isolated conotruncal cardiac defects and http://www.hgmp.mrc.ac.uk/lddb-bin/ab-look-up?1762

85. NTvT - August 1998 FA Beemer, syndromeS 3 VELOCARDIO-FACIAL (VCF/shprintzen) syndrome. TOP OF PAGE. FABeemer, syndromes 3 The Velo-Cardio-Faciaal (VCF/shprintzen) syndrome. http://www.ntvt.nl/entt08_98.htm

var code = " "; document.write(code); AUGUST 1998 SUMMARY NTvT 1998 date page author title August Vol.105: LM Zwarts JSJ Veerkamp KL Weerheijm CP Saridin Contents EVALUATION OF DENTAL BEHAVIOUR OF ANXIOUS CHILDREN AFTER TREATMENT AT A SPECIAL DENTAL CARE CENTRE H Kalsbeek C van Loveren USE OF FLUORIDE TABLETS, PREVALENCE OF DENTAL FLUOROSIS AND CARIES FA Beemer SYNDROMES 3 VELO-CARDIO-FACIAL (VCF/SHPRINTZEN) SYNDROME ORIGINAL ABSTRACT LM Zwarts JSJ Veerkamp KL Weerheijm CP Saridin EVALUATION OF DENTAL BEHAVIOUR OF ANXIUOS CHILDREN AFTER TREATMENT AT A SPECIAL DENTAL CARE CENTRE. Summary. NTvT 1998; ORIGINAL ABSTRACT H Kalsbeek C van Loveren USE OF FLUORIDE TABLETS PREVALENCE OF DENTAL FLUOROSIS AND CARIES Summary. NTvT 1998; ORIGINAL ABSTRACT FA Beemer Syndromes 3 The Velo-Cardio-Faciaal (VCF/Shprintzen) syndrome. Summary. The clinical symptomatology of the velo-cardio-facial (VCF/Shprintzen) syndrome is briefly described. In VCF syndrome a microdeletion of chromosome 22q11.2 can be found, as well as in a number of other clinical entities, leading to the conclusion that it is probably better to speak of the 22ql1.2 clinical spectrum. NTvT 1998;

86. GeneCards Disorder Information: Shprintzen-goldberg Syndrome GeneCards Disorder Information shprintzengoldberg syndrome. Search differentdatabases containing disease information by clicking on the buttons below. http://genecards.bcgsc.ca/cgi-bin/disodisp?Shprintzen-Goldberg syndrome

87. NEJM -- Sign In It is a treat to read what Robert shprintzen has learned over the years from hispatients with shprintzen s syndrome and what Ann Smith has learned from her http://content.nejm.org/cgi/content/full/345/6/472-a

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Access to this article requires sign-in. Subscribers have access to all content. Other registered users have access to research articles six months old and older. If you're a registered user or an activated subscriber SIGN IN User Name Password Forgot your Password? Click here and we'll e-mail it to you. If you do not use cookies, sign in here. Remember my User Name and Password. PURCHASE THIS ARTICLE Purchase a single article and get immediate online access for just $10. If you're a subscriber but have not yet activated your full online access If you'd like to purchase a subscription to NEJM If you're not a subscriber and want FREE limited access... ACTIVATE YOUR SUBSCRIPTION Subscribers to NEJM are entitled to full access to all online content and features, including 20 FREE online CME exams. OR Receive full access to ALL current content and online features including Personal Archives, PDF article downloads, PDA access, E-mail alerts and 20 FREE online CME exams. OR Receive FREE online access to NEJM Original and Special Articles 6 months after publication and choose to receive the Table of Contents and notification of early release articles via e-mail.

88. Velo-Cardio-Facial Syndrome / The Family Village / Library Library U V. Velo-Cardio-Facial syndrome. See Also DiGeorge syndrome, CraniofacialDisorders. Velocardiofacial syndrome From the National Institutes of Health. http://www.familyvillage.wisc.edu/lib_vcfs.htm

Velo-Cardio-Facial Syndrome See Also: DiGeorge Syndrome Craniofacial Disorders Who to Contact Where to Go to Chat with Others ... Search Google for "Velo-Cardio-Facial Syndrome" Who to Contact VCFS Educational Foundation, Inc. Upstate Medical University University Hospital 708 Jacobsen Hall (C.D.U.) 750 East Adams Streeet Syracuse, NY 13210 Telephone: (315) 464-6590 FAX: (315) 464-6593 Email: vcfsef@mail.upstate.edu Web: http://www.vcfsef.org/ Where to Go to Chat with Others VCFS Discussion Forum VCFS The Velo-Cardio-Facial Syndrome and DiGeorge Syndrome List Learn More About It An Article from the OMIM Data Base Learning difficulties and the VCFS Child Velocardiofacial Syndrome From the National Institutes of Health A Brief Overview of Some Affected Areas A Parents’ Guide Everything You Need to Know About Velo-Cardio-Facial-Syndrome Di George Syndrome Frequently Asked Questions about VCFS Velo-Cardio-Facial Syndrome Research Web Sites Velo-Cardio-Facial Syndrome and DiGeorge Syndrome Velo-Cardio-Facial Syndrome Educational Foundation Velo-Cardio-Facial Syndrome The 22q11 Group - United Kingdom ... Whitney's Page Back to [ U - V Family Village Home Library Coffee Shop ... Information Last Updated 1/8/2003 by rowley@waisman.wisc.edu

89. DiGeorge Syndrome - Encyclopedia Article About DiGeorge Syndrome. Free Access, N Conotruncal face anomaly; Craniofacial syndrome; DiGeorge syndrome; Shprintzensyndrome; Unusual face syndrome; Velocardiofacial syndrome (VCFS). . http://encyclopedia.thefreedictionary.com/DiGeorge syndrome

Dictionaries: General Computing Medical Legal Encyclopedia DiGeorge syndrome Word: Word Starts with Ends with Definition DiGeorge syndrome is a hereditary disease A genetic disorder , or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects: They may be caused by an unwelcome mutation, as are most cancers. There are genetic disorders caused by the accidental duplication of a chromosome, as in Down syndrome, or repeated duplication of part of a chromosome as in Fragile X syndrome. The defective genes are often inherited from the person's parents. In this case, the genetic disorder is known as a hereditary disease . This can often happen unxpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant. Click the link for more information. resulting in an inability to fight infections (immunodeficiency) associated with the absence of the thymus glands In human anatomy, the

90. Chromosome 22, Microdeletion 22 Q11 Conotruncal face anomaly; Craniofacial syndrome; DiGeorge syndrome; Shprintzensyndrome; Unusual face syndrome; Velocardiofacial syndrome (VCFS). http://www.fact-index.com/c/ch/chromosome_22__microdeletion_22_q11.html

Main Page See live article Alphabetical index Chromosome 22, microdeletion 22 q11 22 q11 microdeletion syndrome is a birth defect caused by a genetic abnormality that occurs in approximately one in 700 births. Also variously nicknamed, or labelled according to symptomatic manifestations: Catch 22 Conotruncal face anomaly Craniofacial syndrome DiGeorge syndrome Shprintzen syndrome Unusual face syndrome Velocardio-facial syndrome (VCFS) Most commonly known as VCFS CLINICAL FEATURES: This is a partial list among a great variety of problems associated with VCFS. None of these features occur in 100% of cases. 1. Cardiac Manifestations Tetralogy of Fallot right-sided aortic arch persistent truncus arteriosus aberrant left subclavian artery right infundibular stenosis ventricular septal defect 2. Facial Manifestations prominent nose down-slanting, almond shaped eyes low-set, small ears with narrow ear canals high-arched palate bifid uvula fishmouth deformity 3. Endocrine Manifestations Hypoparathyroidism sometimes producing seizures Neonatal hypocalcemia sometimes accompanied by tetany and cataracts 4. Immune Manifestations

91. GeneReviews: 22q11.2 Deletion Syndrome Your browser does not support HTML frames so you must view 22q11.2 Deletion Syndromein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/22q11deletion/

Your browser does not support HTML frames so you must view 22q11.2 Deletion Syndrome in a slightly less readable form. Please follow this link to do so.

92. Velo-Cardio-Facial Syndrome, Cincinnati Children's Hospital Medical Center Return to Site. HeartRelated syndromes. Velocardiofacial syndrome (VCFS). Shprintzensyndrome, Craniofacial syndrome or Conotruncal Anomaly Face syndrome http://www.cincinnatichildrens.org/health/heart-encyclopedia/disease/syndrome/vc

93. Velo-Cardio-Facial Syndrome, Cincinnati Children's Hospital Medical Center HeartRelated syndromes. Velocardiofacial syndrome (VCFS). Shprintzensyndrome, Craniofacial syndrome or Conotruncal Anomaly Face syndrome http://www.cincinnatichildrens.org/health/info/heart/diagnose/vcfs.htm

Home Contact Us Site Map Go to Advanced Search ... Marfan Syndrome Velo-Cardio-Facial Syndrome VACTERL (VATER) Association Signs and Symptoms Cardiac-Related Diagnostic Methods Treatment Options ... Contact Us Heart-Related Syndromes Velocardiofacial Syndrome (VCFS) Shprintzen Syndrome, Craniofacial Syndrome or Conotruncal Anomaly Face Syndrome Explanation Causes How Common? Kinds of Problems ... Resources What is velocardiofacial syndrome? Velocardiofacial Syndrome might be referred to by other names including Shprintzen Syndrome, Craniofacial Syndrome, or Conotruncal Anomaly Face Syndrome. The name Shprintzen Syndrome comes from physician Dr. Robert Shprintzen of the Center for Craniofacial Disorders, who, in 1978, described a series of 12 children with a cleft palate (incomplete closure of the roof of the mouth), heart defects (abnormalities of the heart from the time of birth) and similar facial characteristics. The name Velocardiofacial Syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face thus incorporating the most common features of cleft palate, heart defects, and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems.

94. Cleft Lip And Palate - Related Syndromes [from CLAPA Ireland] Velocardiofacial syndrome Velocardiofacial syndrome (VCFS), also known as Shprintzensyndrome, is the syndrome most commonly associated with a cleft palate http://www.cleft.ie/related/

You are here: Home Page Related Syndromes Related Syndromes There are some 400 known syndromes associated with cleft lip and/or palate. A study (1970) Other studies have reported figures which may not be directly comparable with those listed above. A French investigation by Stoll et al (2000) Note: The large differences in the figures reported above may be due to the distinction between what constitutes a syndrome and what constitutes a malformation. A syndrome is where a number of conditions exist together, while referral to associated malformations may actually indicate a single condition existing in association with a cleft. [Eddie Byrne] Included are details of but a few known syndromes. Related Sections Research Chromosome Disorders Velocardiofacial syndrome Velocardiofacial syndrome (VCFS), also known as Shprintzen syndrome , is the syndrome most commonly associated with a cleft palate, most usually cleft of the soft palate. A cleft lip may also occur.

95. ACQ: W E B W O R D S - 5 - Caroline Bowen - VeloCardio-Facial syndrome 22q deletion, chromosome 22q11.2 deletion, Shprintzensyndrome, DiGeorge syndrome 22q11 deletion syndrome Development and http://members.tripod.com/~Caroline_Bowen/webwords5.htm

Home Page Contents Links A to H I to P ... Q to Z Webwords 5 FACING THE WORLD Craniofacial web resources The ACQ Internet Column: June 2000 Caroline Bowen How basic is this! Thoughts about the fundamental importance of having an intact anatomy for speech production have been running around my head for weeks. For the themes of this edition of the ACQ (the face, teeth, tongue and palate) take us directly to our speech therapy roots, making us think in the most uncomplicated of ways about the organs of speech: how they look and what they do. How basic it is when we meet new clients to start the assessment process by taking a covert but informed squiz at their faces. With a quick flash of the oral torch we invite ourselves to an inside tour of what they keep behind closed lips: you know, the teeth the fairy hasn't claimed yet, the tongue: thrusting, tied , or just plain big , and the palate (I'll get to that shortly )...all that sort of thing. But sometimes the oral musculature examination is deferred when we encounter for the first time a client whose facial features, in themselves, tell us much of what we need to know, and prompt us to reach for the journals to see if there is anything helpful or new for the client and clinician regarding Treacher Collins Syndrome , Velo-Cardio Facial ( Shprintzen) Syndrome ( here Craniosynostosis , or one of the myriad of other conditions and diseases listed in the NORD databases. NORD is the only organization of its kind; a unique federation of more than 140 not-for-profit voluntary health organizations serving people with rare disabilities. Its web site receives more than 5 million hits each year and over 1 million searches of its databases are made annually.

96. Canadian Directory Of Genetic Support Groups (Chromosome) 22q11 Group (VeloCardio-Facial syndrome, DiGeorge syndrome, Shprintzensyndrome, 22q11.2 Deletions) Chromosome Deletion Outreach Inc (Chromosome http://www.lhsc.on.ca/programs/medgenet/c_sup.htm

Index by support group Canadian Directory of Genetic Support Groups Canadian Angelman Syndrome Society (Angelman Syndrome) Canadian Association for Community Living (Down Syndrome, Developmental Delay, Autism, Chromosome Abnormality) Canadian Association for People Who Stutter (CAPS) (Stuttering) Canadian Association for Williams Syndrome (CAWS) (Williams Syndrome) Canadian Association of Friedreich's Ataxia Friedreich's Ataxia) Canadian Association of Speech-Language Pathologists and Audiologists Hearing Impairment, Speech Impairment, Deafness) Canadian Cancer Society (Cancer) Canadian Celiac Association (Celiac Disease) Canadian Centre on Substance Abuse (Abuse of alcohol, tobacco and other drugs) Canadian Cystic Fibrosis Foundation (Cystic Fibrosis) Canadian Deafblind and Rubella Association Deafblind, Rubella)

97. S Index SHAKEN BABY syndrome. SHOPPING FOR YOUR CHILDREN. SHORT STATURE. SHPRINTZENsyndrome. SHWACHMAN syndrome. SHYDRAGER syndrome. SHYNESS. SIBLING RIVALRY. http://www.childhealthinfo.com/sindex.htm

Where to Start About ABC@F Press Child Care for the '90' - Owner's Manual Links ... Z Please click on "safety" to view that topic. SAFETY Please click on the "box below" to view the following topics. S Part I SALAMON SYNDROME SANDHOFF DISEASE SANFILIPPO SYNDROME SARCOIDOSIS SCHEIE SYNDROME SCHIZOPHRENIA SCHOLARSHIPS SCHOOLS SCLERODERMA SCOLIOSIS SECKEL SYNDROME SEIZURE DISORDERS Please click on the "box below" to view the following topics. S Part II SELF-ESTEEM SELF-HELP SELF MUTILATION SENIORS SEPARATION AND LOSS SEPTO-OPTIC DYSPLASIA SEX EDUCATION SEXUAL ABUSE SEXUAL HARASSMENT SEXUALLY TRANSMITTED DISEASES (STD'S) Please click on the "box below" to view the following topics. S Part III SHAKEN BABY SYNDROME SHOPPING FOR YOUR CHILDREN SHORT STATURE SHPRINTZEN SYNDROME SHWACHMAN SYNDROME SHY-DRAGER SYNDROME SHYNESS SIBLING RIVALRY SICK CHILDREN (SERIOUSLY ILL) SICKLE CELL ANEMIA SINGLE PARENTS SINUSITIS SJOGREN'S SYNDROME SKIN DISEASES Please click on the "box below" to view the following topics. S Part IV SLEEP APNEA SLEEP PROBLEMS SMELL AND TASTE PROBLEMS SMITH-LEMLI-OPITZ SYNDROME SMITH-MAGENIS SYNDROME SMOKING SMOKING, PREVENTION

98. Karger Publishers External Resources 9 GoldingKushner KJ, Weller G, shprintzen RJ Velo-cardio-facialsyndrome Language and psychological profiles. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

99. VCFS This page is no longer supported. Please go to one of the other VCFS support pages such as www.vcfs.net, www.snonet.org/vcfs/ or www.vcfsef.org. http://www.crosslink.net/~marchett/vcfs/vcfs.shtml

This page is no longer supported. Please go to one of the other VCFS support pages such as www.vcfs.net www.snonet.org/vcfs/ or www.vcfsef.org

100. Metropolitan Cardiology Consultants (MCC) Was Established In 1985 Metropolitan Cardiology Consultants (MCC) was established in 1985 to provide comprehensive specialty care for patients with cardiovascular health needs. Our http://www.metrocardiology.com/pcSites/alpha3.cfm?startletter=V&curpage=search

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