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         Shprintzen Syndrome:     more detail
  1. Syndrome Identification for Speech-Language Pathology: An Illustrated Pocketguide by Robert J. Shprintzen, 2000-01-15
  2. Syndrome Identification for Audiology: An Illustrated PocketGuide by Robert J. Shprintzen, 2001-02-02
  3. Velo-Cardio-Facial Syndrome, Volume I (Genetic Syndromes and Communication Disorders) by Robert J. Shprintzen, Karen J. Golding-Kushner, 2008-07-01
  4. Genetics, Syndromes and Communication Disorders by Robert J. Shprintzen, 1997-10-01
  5. Shprintzen-Goldberg craniosynostosis syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Amy, MS, CGC Vance, 2005
  6. Growth Velocity, Weight Gain & Growth Charts for Velo-Cardio-Facial Syndrome: Management of Feeding and Swallowing Problems by Robert J. Shprintzen, 2010-01-01
  7. Velo-Cardio-Facial Syndrome Volume 2: Treatment of Communication Disorders by Karen J. Golding-Kushner, Robert J. Shprintzen, 2009-11-01
  8. Genetics, Syndromes and Communication Disorders by Robert J. Shprintzen,
  9. Velo-cardio-facial syndrome. (DVD included) (Genetic syndromes and communication by Robert J. and Karen J. Golding-Kushner. Shprintzen,

61. Tehran Doctors Directory
Severe Combined Immunodeficiency Sever's Disease Sexually Transmitted Diseases Sheepand Goat Diseases Shingles Shock shprintzen syndrome Shwachman Syndrome Shy
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62. Searchalot Directory For S
3); Shingles (26); Short Bowel Syndrome (5); shprintzen syndrome (5);Shwachman Syndrome (6); ShyDrager Syndrome (3); Sickle Cell Disease
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63. Editorial
2. Smith DW. shprintzen syndrome (Velocardiofacial syndrome) In RecognizablePatterns of Human Malformations, 5th edn. Ed. Smith DW.
http://www.indianpediatrics.net/march-315-319.htm
Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2000;37: 315-319 Variable Clinical Phenotypes of Velocardiofacial Syndrome in a Pair of Brothers Munni Ray
Pratibha Singhi
Prabhjyot Malhi
Anil Bhalla
From the Division of Pediatric Neurology, Department of Pediatrics, Advanced Peditric Center, Post Graduate Institute of Medical Education and Research, Chandigarh 160 012, India.
Reprint requests: Dr. Pratibha D. Singhi, Additional Professor, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh 160 012, India. Manuscript Received: April 13, 1999;
Initial review completed: May 18, 1999;
Revision Accepted: August 30, 1999
Velocardiofacial syndrome (VCFS) is a genetic disorder with an estimated frequency of 1 in 4000 live births(1). This disorder is characterized by cardiac defects, cleft palate, learning disabilities and mild facial dysmor-phology(2). The identification of these patients is difficult because it is a multisystem syndrome with numerous anomalies, many of which are considered minor and found in general population(3). The enormous variability of this condition is seen by the different clinical features which are present in the affected members of the same family(4,5). There is a paucity of documentation on this subject in Indian literature. Hence we report a pair of siblings born to nonconsanguineous parents who had variable clinical phenotype.

64. Page Neonatal Diseases And Disorders
of Utah (US) Back to top of Page. Velocardiofacial Syndrome (shprintzen syndrome).About VeloCardio-Facial Syndrome Back to top of Page. Waardenburg's Syndrome.
http://www.insight-media.co.uk/users/stevew/Pages/Page Neonatal Diseases and Dis
PAGE NEONATAL DISEASES AND DISORDERS
General, Neonatal Diseases and Disorders
Rubinstein-Taybi Syndrome
Abnormalities Smith-Lemli-Opitz Syndrome ... Syphilis, Congenital
GENERAL, NEONATAL DISEASES AND DISORDERS
Online Mendelian Inheritance in Man - NCBI (US)
A Gene Map of the Human Genome
, including a list of Featured Genes - NLM/NCBI (US)
Genetic/Rare Conditions, Support Groups and Information
- KUMC (US)
The US National Organization for Rare Disorders , and a list of its Member Organizations
Resources for People with Facial Difference
, 1997 ed. - Lets Face It
About Some Spinal Cord and Brain Development Disorders - Boston Univ. (US)
Association of Birth Defect Children
, Inc. - (US)
Rare Genetic Diseases in Children
- N Y Medical C. (US)
On Genetic Disorders - (US)
The GeneCards Encyclopedia - Weizmann Institute (IL)
GENLINE - Medical Genetics Knowledge Database
Genetic Drift Newsletter and Newborn Screening Practitioner's Manual - MSRGSNet, Arizona (US) Genetic Testing Information from GeneCare, Inc. (US) Fill Out Your Own Family Health History Tree - AMA (US) Developmental Medicine Textbook - Develop. Med. Forum

65. Department Of Otolaryngology & Communication Sciences
Red Flags for shprintzen's syndrome Congenital Heart Abnormalities;Cleft Palate; Chronic Respiratory Problems; Hypocalcemia; Failure
http://www.upstate.edu/ent/redflags.html
Red Flags for Shprintzen's Syndrome
  • Congenital Heart Abnormalities
  • Cleft Palate
  • Chronic Respiratory Problems
  • Hypocalcemia
  • Failure to Thrive with Nasal Vomiting
  • Learning Disabilities
  • ADHD
  • Small Hands and Feet
  • Distinctive Facial Features:
  • Retruded Lower Jaw
  • Puffy Eyelids
  • Prominent Nasal Bridge
  • Overfolded Ears
  • Psychiatric Problems such as Bipolar Affective Disorder
Some Features Common to VCFS: Eyes: puffy lids and allergic "shiners" below eyes; ears: overfolded helix and attached lobule; nose: pear-shaped; hands: tapered fingers with short nail base.

66. Congenital, Hereditary, And Neonatal Diseases And Abnormalities
Comprehensive list of links from Karolinska Institutet, Sweden.Category Health Nursing Specialties Neonatal...... VeloCardio-Facial / shprintzen / syndrome Links - Family Village/Wisconsin(US); Velo-Cardio-Facial syndrome Educational Foundation, Inc.
http://www.mic.ki.se/Diseases/c16.html
search help staff
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
(including Pediatrics)
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. Alphabetical List of Diseases

Search PubMed at NCBI/NLM

67. 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

68. 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

69. Shprintzen's Syndrome
shprintzen's syndrome. My 23 year old son and his girlfriend are havinga baby and I am very concerned as my son has shprintzen's syndrome.
http://www.nldline.com/adultwwwboard/messages/1974.html
Shprintzen's Syndrome
Post a Followup Message Adult NLDline Bulletin Board
Posted by Pam on August 10, 202 at 11:00:50: My 23 year old son and his girlfriend are having a baby and I am very concerned as my son has Shprintzen's Syndrome. Years ago when it was diagnosed the geneticist and doctor informed us that any children he may someday have stand a 50/50 chance of being severely handicapped. Does anyone have further information on the likelihood of this occuring and the possible severity? What information should I be passing on to their doctor to monitor during this pregnancy?
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: My 23 year old son and his girlfriend are having a baby and I am very concerned as my son has Shprintzen's Syndrome. Years ago when it was diagnosed the geneticist and doctor informed us that any children he may someday have stand a 50/50 chance of being severely handicapped. : Does anyone have further information on the likelihood of this occuring and the possible severity? What information should I be passing on to their doctor to monitor during this pregnancy?
NLDline is designed for educational purposes only. The contents of this website are not medical, legal, technical or therapeutic advice and must not be construed as such. The information contained herein is not intended to substitute for informed professional diagnosis, advice or therapy. Visitors should not use this information to diagnose or treat NLD without also consulting a qualified medical or educational professional.

70. 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
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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;

71. Syndrome Identification For Speech-Language Pathologists: An Illustrated PocketG
syndrome Identification for SpeechLanguage Pathologists An Illustrated PocketGuideShprintzen Robert J. syndromes, Handbooks manuals etc, Genetic disorders
http://www.book-archive.com/Shprintzen-Robert-J-Syndrome-I-0769300197.html
Title: Syndrome Identification for Speech-Language Pathologists: An Illustrated PocketGuide Subject2 Nonfiction, Medicine, Reference
Author: Shprintzen Robert J.
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72. Syndrome Identification For Audiology: An Illustrated PocketGuide Shprintzen Rob
syndrome Identification for Audiology An Illustrated PocketGuide shprintzen RobertJ. Science/Mathematics, syndromes, Handbooks manuals etc, Genetic disorders
http://www.book-archive.com/Shprintzen-Robert-J-Syndrome-I-0769300200.html
Title: Syndrome Identification for Audiology: An Illustrated PocketGuide Subject2 Medicine, Science
Author: Shprintzen Robert J.
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73. 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

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74. Psychology Arena - Subject Listing Of Psychology Journals
Abstract shprintzen's syndrome, or Velocardio-facial syndrome (VCFS), is an autosomaldominant multiple anomaly disorder linked to a hemizygous interstitial
http://gessler.ingentaselect.com/vl=1/cl=7/ini=psyarena/nw=1/rpsv/catchword/rout
Document Request
Title: Velo-cardio-facial (Shprintzen's) Syndrome, violence and schizophrenia Author(s): Zubin Bhagwagar MD, MRCPsych, MRC ; David Mawson FRCPsych Source: Journal of Forensic Psychiatry Volume: Number: Page: DOI: Publisher: Abstract: Shprintzen's Syndrome, or Velo-cardio-facial Syndrome (VCFS), is an autosomal dominant multiple anomaly disorder linked to a hemizygous interstitial deletion of chromosome 22q11. We believe this is the first reported case of schizophrenia coexisting with VCFS in a patient whose genotype does not show the characteristic micro-deletion. Second, the association of VCFS with violent fantasies and dangerous behaviour has not been reported and provides an interesting dimension to the study of 'dangerousness'. It is important that psychiatrists keep in mind the possibility that dangerous behaviour may be associated with specific, though perhaps rare, clinical syndromes. However, the nature of the association between the two needs to be established. Reference Links: The requested document is freely available only to registered users with an online subscription to Journal of Forensic Psychiatry
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75. Select Velo-Cardio-Facial Syndrome Publications
Goldberg R, Motzkin B, Marion R, Scambler P, shprintzen RJ (1993), Velocardio-facialsyndrome A review of 120 patients. Am J Med Genet 45313-319.
http://www-cap.stanford.edu/research/syndromes_disorders/vcfs/pubs.html
Select Velo-Cardio-Facial
Syndrome Publications
For publications written by CAP personnel, see CAP Publications: Velo-Cardio-Facial Syndrome Additional VCFS Publications for those interested in learning more about vcfs Goldberg R, Motzkin B, Marion R, Scambler P, Shprintzen RJ (1993), Velo-cardio-facial syndrome: A review of 120 patients. Am J Med Genet 45:313-319 Golding-Kushner KJ, Weller G, Shprintzen RJ (1985), Velo-cardio-facial syndrome: Language and psychological profiles. J Craniofac Genet Dev Biol 5:259-266 Lindsay EA, Morris AM, Gos A, Nestadt G, Wolyniec SP, Lasseter VK, Shprintzen RJ, Antonarakis SE, Baldini A, Pulver A (1995), Schizophrenia and Chromosomal Deletions with 22q11.2. Am J Hum Genet 56:1502-1503 Mitnick RJ, Bello JA, Shprintzen RJ (1994) Brain anomalies in velo-cardio-facial syndrome [see comments]. Am J Med Genet; 54(2):100-10 Moss EM, Batshaw ML, Solot CB, Gerdes M, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Wang PP (1999) Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr; 134(2):193-198 Papolos DF, Faedda G, Veit S, Goldberg R, Morrow B, Kucherlapati R, Shprintzen RJ (1996), Bipolar spectrum disorder in patients diagnosed with Velo-cardio-facial Syndrome: Does a hemizigous deletion of chromosome 22q11 result in bipolar affective disorder ? Am J Psychiatry 153:1541-1547

76. VADA GEZONDHEID En ZIEKTE - HEALTH And DISEASE
SYNDROOM van shprintzen shprintzen's syndrome VELOCARDIO-FACIAAL SYNDROOM VELOCARDIOFACIALI VELOCARDIOFACIAL syndrome VCF VCFS CONOTRUNCAL ANOMALY UNUSUAL
http://www.vada.nl/medisch/medseh.htm
VADA - GEZONDHEID en ZIEKTE
HEALTH and DISEASE
SE - SH
OPGELET - ATTENTION
Patienten en leken die raadgevingen/adviezen/informatie zoeken via deze verzameling links wordt dringend geadviseerd de verzamelde informatie te bespreken met de (behandelend) arts/specialist/hulpverlener.
Patients and lay persons 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.
SEASONAL AFFECTIVE DISORDER SAD
See also: MELATONIN MELATONINE MELATONIN HORMONE SUPPLEMENT
See also: LICHTTHERAPIE LIGHT THERAPY
  • Light Systems FAQs about light therapy and an explanation of Seasonal Affective Disorder and how it can be treated
  • Melatonin and SAD View articles and links to sites about seasonal affective disorder and the use of melatonin
  • Seasonal Affective Disorder (SAD) Zeer medische en wetenschappelijke uitleg over deze seizoensgebonden stemmingsstoornis. Ook lichttherapie komt aan bod
  • Seasonal Affective Disorder
    SEBORRHEIC DERMATITIS
    See also: ALLERGIE ALLERGY
    See also: ECZEEM ECZEMA
    See also: HUIDONTSTEKING DERMATITIS
    See also: HUIDUITSLAG HIVES
  • Seborrheic Dermatitis Overview Describes the symptoms most often associated with this disease, discusses cradle cap in infants, and gives advice about different treatments
  • 77. Velocardiofacial Syndrome From Pediatrics / Cardiology
    Young D, shprintzen RJ, Goldberg RB Cardiac malformations in the velocardiofacialsyndrome. Am J Cardiol 1980 Oct; 46(4) 6438Medline. NOTE
    http://author.emedicine.com/PED/topic2395.htm
    eMedicine Journal Pediatrics Cardiology
    Velocardiofacial Syndrome
    Synonyms, Key Words, and Related Terms: DiGeorge sequence, Shprintzen syndrome, 22q11 deletion Author Information Introduction Clinical Differentials ... Bibliography
    AUTHOR INFORMATION Section 1 of 12 Authored by Robert Ardinger, Jr, MD , Associate Professor, Department of Pediatrics, Division of Pediatric Cardiology, University of Kansas Medical Center Coauthored by Holly Ardinger, MD , Section Chief, Pediatric Genetics, Clinical Associate Professor, Department of Pediatrics, University of Kansas Medical Center Robert Ardinger, Jr, MD, is a member of the following medical societies: American Academy of Pediatrics , and American College of Cardiology Edited by Jeffrey Towbin, MD , Associate Chair of Pediatric/Cardiology, Professor, Departments of Pediatrics, Molecular and Human Genetics, Cardiovascular, Baylor College of Medicine and Texas Children's Hospital; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Ameeta Martin, MD

    78. Page Not Found
    shprintzenGoldberg syndrome. syndrome, shprintzen-Goldberg syndrome.Gene Name, Fibrillin-1. Gene Symbol, FBN1. OMIM Number of the Gene, 134797.
    http://www.nidr.nih.gov/cranio/detail/182212.htm
    Please check to see if you entered the correct URL. If you did, it might be that the link no longer exists. As an option, you may do a search of our site. If all else fails, please fill in the form below and send it to the webmaster to report the broken link. Your Name:
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    NIDCR Home Page
    Contact us Accessibility Privacy statement ... Search Image in banner: magnified fluoride crystal National Institute of
    Dental and Craniofacial Research
    National Institutes of Health
    Bethesda, MD 20892-2190
    e-mail: nidcrinfo@mail.nih.gov
    phone: 301/496-4261 National Institutes of Health Department of Health
    and Human Services

    79. 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
    Learn More About It
    Web Sites
    Back to [ U - V Family Village Home Library Coffee Shop ... Information Last Updated 1/8/2003 by rowley@waisman.wisc.edu

    80. Velo-Cardio-Facial Syndrome, Cincinnati Childrens Hospital Medical Center
    HeartRelated syndromes. Velocardiofacial syndrome (VCFS). Shprintzensyndrome, Craniofacial syndrome or Conotruncal Anomaly Face syndrome
    http://www.cincinnatichildrens.org/Health_Topics/heart-encyclopedia/disease/synd
    Heart Center Encyclopedia Introduction Cardiac Anomalies / Congenital Heart Defects Heart Diseases ... Marfan Syndrome Velo-Cardio-Facial Syndrome VACTERL (VATER) Association Signs and Symptoms Cardiac-Related Diagnostic Methods Treatment Options ... Glossary
    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.

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