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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.

Genes and Disease and Online Mendelian Inheritance in Man [OMIM; VA McKusik et al.] - NCBI (US)
A Gene Map of the Human Genome 1998, and a list of Human GeneMap '99 - NLM/NCBI (US)
Genetics-Disease Research News from CDC (US)
About Genetic Disorders - GSLC, Univ. of Utah (US)
Kim Davis - Can A Genetic Disease Be Cured? - A Mother's Dilemma [case study; MS Hudecki]
Genetic/Rare Conditions, Support Groups & Information - KUMC (US)
Genetic Diseases: A Layman's Approach [Murphy et al] - N Y Medical C. (US)
Genetic Diseases: an introduction - Med Coll of Wisconsin (US)
The (Genetic) Disorder Zone Archive at Special Child
The US National Organization for Rare Disorders, including the Rare Disease Database
Search Jablonski's MCA/MR Syndromes Database - NLM (US)
Indice delle malattie [in Italian] - InformaGene (IT)
Liste des maladies, and an English version - OrphaNet (FR)
A Birth Disorder Information Directory - Spamgid.com
Blazing A Genetic Trail - Howard Hughes Med Inst (US)
Rare Genetic Diseases in Children [Murphy et al] - N Y Medical C. (US)
On Genetic Disorders [E. Friedlander] - (US)
The GeneCards Encyclopedia - Weizmann Institute (IL)
GeneClinics - Medical Genetics Knowledge Database including an extensive set of disease information pages
Genetic Drift Newsletter
and Newborn Screening Practitioner's Manual - MSRGSNet, Arizona (US)
Human Gene Mutation Database [Cooper et al.] - Cardiff (UK)
About Gene Tests [registration (no charge) required] - NIH/HRSA (US)
Genetic Testing Information from GeneCare, Inc. (US)
Genetic Diagnostic Tests available at Medical Genetics Laboratories/BMC (US)
Genetics Education Center - University of Kansas Medical Center (US)
Genetics Resource Center [MG Banke] - Univ of Pittsburgh
Understanding Genetic Testing including How are disease genes identified? - US Dept of Health & Human Services
A Short History of Mapping [B. Mertz] - The Biotech Chronicles
Clinical Genetics: A Self Study for Health Care Providers - U of Iowa (US)
Rare Diseases Clinical Research Database - NIH (US)
Prenatal Diagnosis [GR DeVore] - Fetal.Com
Prenatal Diagnosis [images] - WebPath, Univ. of Utah (US)

Policy Guidelines, and 'The Best of Pediatric Internet' - reviews by the American Academy of Pediatrics
Harriet Lane WWW Links ('Pediatric Points of Interest') [CU Lehmann] - Johns Hopkins U.
Children's Medical Office - N Andover, MA (US)
Children's Hospital Handbook, 1999 - The Children's Hospital, Westmead (AU)
picuBOOK.net - WUSTL (US)
About some common Pediatric Conditions [V Iannelli] - About.Com
The Pediatric Bulletin [MR Nieves] - Puerto Rico
Pediatric Critical Care Medicine - LK Whittier Foundation
Pediatric Radiology [curated by MP D'Alessandro] - Iowa (US)
The New Children's Hospital Handbook - 1999 Edition - Sydney (AU)
ABCs of Safe and Health Child Care - CDC (US)
generalpediatrics.com [links; DM D'Alessandro] - Univ. of Iowa
A Web directory for A to Z Pediatric Primary Care [links]
Common Pediatric Problems and Correlapaedia - a Correlative Encyclopedia of Pediatric Imaging, Surgery and Pathology [D'Alessandro et al.] - Children's Virtual Hospital, Iowa (US)
PEDINFO, A Pediatrics Web Server - (US)
Issues in Pediatrics - Pritzker School of Medicine, Chicago (US) Pediatric Surgery Update including an index page
Kinderkrankenpflege-Netz [in German] - (DE)
PedBase [disease synopses; A Gandy]
Pediatric Evidence Based Medicine - Washington (US)
Internet Resources for Special Children [J Ciamarra] - IRSC

Resources for People with Facial Difference, 1997 ed. - Lets Face It
I.B.I.S. - International Birth Defects Information Systems
Birth Defect Research for Children, Inc. - (US)
Search the Bibliographical Database at Global ChildNet
On AZT and Birth Defects - Chronic Illnet (US)
ZYGOTE, about Developmental Biology [S Gilbert] - Swarthmore College, PA (US)
Development of the Human Heart [C. Wellman] - Loyola University (US)
Nutrition's Role in Preventing Birth Defects [reprint, Jan/Feb '94] - Food Insight (US)
On Why Folic Acid is so Important - CDC (US)
Folate - A Guide for Professionals - Victoria (AU)
Prevention of Neural Tube Defects - via The Arc (US)


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INFANT, NEWBORN, DISEASES

Neonatology on the Web - Ahamson Pediatric C.
Paediapedia, An Imaging Encyclopedia of Pediatric Disease [MP D'Alessandro] - U of Iowa (US)
A Child (and Teen) health Topics - MedlinePlus, NLM
Education & Assistance for Parents and Patients from Children's Hosp Med C/Cincinnati OH (US)
Newborn: Health Issues - KidSource Online
Problems of Newborns - Vanderbilt University (US)
Evaluation of the Newborn with Single or Multiple Congenital Anomalies: A Clinical Guideline [pdf] - Am Coll Med Genet Foundation
PedBase [A. Gandy]
Harriet Lane WWW Links (Pediatrics) [CU Lehman] - Johns Hopkins (US)
PEDINFO, A Pediatrics Web Server - University of Alabama (US)
Am. Acad. of Pediatrics
Infant Cry Archive [SE Blache] - Illinois (US)
For Parents of Preemies - Meriter Hosp., Madison, Wisconsin (US)
About Infants of Diabetic Mothers - MedStudents (BR)
Apgar Scoring for Newborns - Childbirth.org (US)
Journal of the Neonatal Nurses Assoc. - (UK)


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• Jaundice, Neonatal
  • Jaundice in Healthy Newborns - AAP (US)
  • Jaundice and Hyperbilirubinemia in the Newborn - MedStudents (BR)
• Fetofetal Transfusion
  • The Twin to Twin Transfusion Syndrome - (US)
  • About Twin Twin Transfusion Syndrome, and Acardiac Twin - Florida Institute for Fetal Diagosis & Therapy (US)
• Syphilis, Congenital
  • About Congenital Syphilis [S Sehgal] - CSMC (US)
• Amniotic Band Syndrome
  • About Amniotic Band Syndrome and Operative Fetoscopy
  • Amniotic Banding [J Smiles]
  • Absent hand in fetus [US images] - St Pauls Hosp
• Cystic Fibrosis
  • About Cystic Fibrosis - CF-WEB/MIT (US)
  • The US Cystic Fibrosis Foundation
  • About Cystic Fibrosis [A. Gandy] - PedBase
  • About Cystic Fibrosis [E. Rountree] - (CA)
  • Cystic Fibrosis Resource Page [R Lukas] - (US)
  • Cystic Fibrosis in the Adult [GA do Pico] - PCCU/CHEST (US)
  • The Cystic Fibrosis Web Ring
  • Advances in Cystic Fibrosis [Boas & McColley] - The Child's Doctor
  • Cystic Fibrosis Pharmacotherapy [Lee and Anley; '97]
  • Links to some Cystic Fibrosis Support Groups & Other Resources - (US)
  • Muco-Web , in French [J-C Favre]
  • Sweat Testing [M Rock] - U of Wisconsin (US)
  • Cystic-L Handbook from the Cystic Fibrosis Information & Support
  • Cystic Fibrosis [Welsh and Smith] - SciAm, Dec '95
  • Cystic Fibrosis Genetic Testing - Michigan State Univ. (US)
  • Testing for Cystic Fibrosis - GeneCare, Inc. (US)
  • Cystic Fibrosis Ibuprofen Laboratory - via Case Western Univ. (US)
  • Cystic Fibrosis Mutation Database - CF Genetic Analysis Consort. (CA)

FETAL DISEASES


• Fetal Alcohol Syndrome
  • The US Nat'l Organization on Fetal Alcohol Syndrome
  • About Fetal Alcohol Syndrome & Fetal Alcohol Effect - U of Oklahoma (US)
  • The Fetal Alcohol and Drug Unit at Univ of Washington (US)
  • Fetal Alcohol Syndrome Branch at CDC (US)
  • Fetal Alcohol Syndrome - The TRIUMF Project (CA)
  • FAS & FAE seminars [K Shea]
  • On FAS & FAE - (US)
  • Alcohol Related Birth Injury (FAS/FAE) Resource Site - ARBI Community
• Meconium Aspiration
  • Meconium Aspiration Syndrome [Morabito and DiCarlo] - picuBook.net/WUSTL (US)
  • Meconium Aspiration Syndrome (MAS) [DA Clark; note: 10 pages] - eMedicine
  • Meconium Aspiration Syndrome: Pathophysiology and Prevention [Klinger and Kruse] - FamilyPractice.com
  • Meconium-stained Amniotic Fluid: Meaning and Management [H Galan; CME article] - OBG Management
  • Delivery room management of the apparently vigorous meconium-stained neonate: ... [abstract; Wiswell et al.] - Pediatrics Jan '00
  • Meconium aspiration syndrome: reflections on a murky subject [abstract; Katz and Bowes] - Am J Obstet Gynecol, Jan '92

HEREDITARY DISEASES


Identified Inherited Disease Genes - NHGRI (US)
Just What is a Genetic Disorder? - Univ of Utah, SOM/Genetics (US)


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• Rett Syndrome
  • The International Rett Syndrome Association
  • About Rett Syndrome [from AGSA Newsletter] - via DIRC (AU)
  • Rett Syndrome Association UK
  • Rett Syndrome - Pediatr Bull
  • Rett Syndrome - WeMove
  • Rett Syndrome [SM Edelson] - CSA, Portland, Oregon (US)
  • The Indiana Rett Syndrome Group - (US)
  • Tamara's Site on Rett Syndrome and More
  • Association Francaise du Syndrome de RETT
  • The Swedish Rett Center - Frösön, Jämtland (SE)
  • About Rett Syndrome [A. Gandy] - PedBase
• Sturge-Weber Syndrome
  • About Sturge-Weber Syndrome - Uniformed Serv U. of Health (US)
  • Norsk Forening for Sturge-Weber Syndrome [K Sletten] - Oslo (NO)
  • About Stephanie [JW Yarbrough] - TX (US)
  • Sturge-Weber discussion - NeuroWebForum (US)
  • The Sturge-Weber Foundation
• Neuronal Ceroid-Lipofuscinosis (Batten Disease/Spielmeyer-Vogt Disease)
  • About Batten Disease - Nat'l Inst. of Neurological Disorders & Stroke (US)
  • The Batten Disease Support & Research Assoc.
  • Juvenile Battens' Disease - seeABILITY
• Werner Syndrome
  • Werner's Syndrome - NCBI
  • Werner Syndrome - OMIM, NCBI (US)
• Neurofibromatoses
  • About Neurofibromatosis - and more specifically, about NF 1 (von Recklinghausen NF, Peripheral NF), NF 2 (Bilateral Acoustic NF), and Schwannomatosis - US NF Foundation Inc.
  • A brief note about Lisch nodules [Baskin and Chang] - Virtual Hosp.
  • Neurofibromatosis 1 and Cafe-au-Lait Spots [RD Sheth] - eMedicine
  • Neurofibromatosis Type 1, NF1 (von Recklinghausen Disease) - OMIM
  • NF2 Crew
  • The Neurofibromatosis Webring,
  • Neurofibromatosis Resources, and photos of some Visible Symptoms (Neurofibromatosis 1) - MGH/Harvard
  • Neurosurgical aspects on Neurofibromatosis [A-M Yost,'96] - NF, Inc.
  • Neurofibromatosis - MedStudents (BR)
  • Les Neurofibromatoses [in French]
  • About NF1 and NF2 - NF Foundation, British Columbia (CA)
  • Neurofibromatosis Discussions - NeuroWeb Forum, MGH (US)
  • NF2 Gene (Chromosome 22) - NCBI (US)
• Cerebral Gigantism (not on MeSH)
  • Sotos Syndrome Home Page - SSSA (US)

ABNORMALITIES


About Some Central Nervous System Abnormalities [R Brewer] - MSIO (US)
Story of the Development and Maldevelopment of the Brain [AK Afifi] - Virtual Hosp., Iowa (US)
Multiple Congenital Anomaly / Mental Retardation Syndromes [S Jablonski] - NLM (US)
Cephalic Disorders - NINDS/NIH (US)
VACTERL association - The Fetus
The VATER Association - (US)
Radial Club Hand: Hypoplastic Thumb: The VATER anomaly - Hand Clinic, Leeds (UK)


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• Situs Inversus
  • A Q&A about Situs inversus - MCW HealthLINK (US)
  • The sources of symmetry [H Gee] - nature
  • A case of Situs inversus - U of Alabama/Radiology (US)
  • Cardiac Malpositions - PediHeart
  • Situs Inversus Viscerum (large abdominal organs) [OMIM; McKusik] - NCBI (US)
  • Situs inversus (iv) Mutation [in mice; Sundberg & Collins] - Jackson Laboratory (US)
  • A Case of Situs inversus totalis - Walter Reed Army Med C. (US)
• Ivemark Syndrome (not on MeSH)
  • Asplenia with Cardiovascular Anomalies [OMIM; McKusik] - NCBI (US)
  • About little Mykal
  • About Asplenia [M Kumar] - eMedicine
• Usher Syndrome (not on MeSH)
  • About Usher Syndrome - Boys Town National Research Hospital, NE (US)
  • Usher Syndrome & Other Related Diseases - The Foundation Fighting Blindness (US)
  • Usher Syndrome: A Condition which affects Hearing and Sight [M Guest] - SENSE (UK)
  • Usher Syndrome: A condition that affects hearing and sight [M Guest] - (UK)
  • About Usher Syndrome - TARP, TX (US)
• Waardenburg's Syndrome
  • About Waardenburg Syndrome - BoysTown
  • The PAX3 Gene (Chromosome 22) - NCBI (US)
  • Waardenburg Syndrome Type 1 [OMIM; McKusik] - NCBI (US)
• Trichothiodystrophy (not on MeSH)
  • About Trichothiodystrophy - Keratin.Com
  • About Trichothiodystrophy (TTD) - SciAm, Mar '01
  • Amish brittle hair syndrome (TTD) and Tay syndrome (TTD 2) [S Jablonski] - MCA/MR Syndromes
• Incontinentia Pigmenti
  • Incontinentia Pigmenti (Bloch-Sulzberger/Siemens Syndrome) - Vanderbilt U (US)
  • The US Nat'l Incontinentia Pigmenti Foundation - New York
• Proteus Syndrome
  • Proteus Syndrome [OMIM; McKusik] - NCBI (US)
  • Proteus Syndrome Foundation - (US)
  • The Elephant Man's Underlying Condition - Daily Inscight/AP, Dec '96 (US)
• Bannayan-Zonana Syndrome (not on MeSH)
  • Macrocephaly, Multiple Lipomas and Hemangiomata [OMIM; McKusik] - NCBI (US)
  • Bannayan-Zonana Syndrome, a quick survey of recent literature - Indiana Univ. (US)
• Microcephaly
  • On-line Microcephaly Support Group - (UK)
  • About Microcephaly - Neonatology on the Web (US)
  • The Microcephaly Support List
  • Microcephaly - PedBase
• Anencephaly
  • The Anencephaly Support Foundation - (US)
  • The Anencephaly Support List
  • Infants with Anencephaly as Organ Sources: Ethical Considerations - AAP (US)
  • On Transplantation of organs from newborns with anencephaly - Canadian Paediatric Society
  • Anencephaly [picture] - WebPath (US)
• Lissencephaly (not on MeSH)
  • The Lissencephaly Network, Inc.
  • The Lissencephaly Launch Pad
  • About Fukuyama Congenital Muscular Dystrophy [OMIM; McKusik] - NCBI (US)
• Schizencephaly (not on MeSH)
  • Schizencephaly Support Group [Wright & Niedzwiecki] - (US)
  • About Schizencephaly [L Carson] - Virtual Hosp. (US)
  • Bilateral Closed-lip Schizencephaly [Baujan & Berlin] - Rainbow Babies & Children Hosp. (US)
• Robinow Syndrome (not on MeSH)
  • Robinow Syndrome Fact Sheet - Jablonski's Syndromes Database/NLM (US)
  • Robinow Syndrome Foundation - (US)
  • About the Robinow (Fetal Face) Syndrome - (NL)
• Smith-Lemli-Opitz Syndrome
  • Smith-Lemli-Opitz Syndrome Advocacy & Exchange
  • Opitz Family Network
  • Smith-Lemli-Opitz Syndrome - GeneClinic, U of Washington (US)
  • Precise cause of Smith-Lemli-Opitz syndrome found [T Sheldon] - BMJ Sep '98
  • A 3 week old girl ... [Wang et al] - U of Pittsburgh
• Oculocerebrorenal Syndrome (Lowe Syndrome)
  • The Int'l Lowe Syndrome Association, Inc.
• Aicardi Syndrome (not on MeSH)
  • Aicardi Syndrome Foundation - (US)
  • Aicardi Syndrome - Contact a Family (UK)
• Basal Cell Nevus Syndrome (Gorlin/Goltz Syndrome)
  • A case of Oral Cysts and Numerous Skin Lesions (Naevoid Basal Cell Carcinoma) - UPMC (US)
  • Basal Cell Nevus Syndrome - OMIM (US)
  • Naevoid Basal Cell Carcinoma Syndrome - Atlas of Genetics & Cytogenetics in Oncology and Haematology (FR)
• Prune Belly Syndrome
  • Prune Belly Syndrome Support Network - (US)
  • About Prune Belly Syndrome [A Gandy] - PedBase
  • Prune Belly Syndrome - The Fetus
• Bloom Syndrome
  • About Bloom Syndrome - Cancer Genetics
  • Bloom Syndrome - Univ. of Pittsburgh (US)
  • Bloom Syndrome [A Hutchins] - (UK)
  • On Bloom Syndrome - GeneCards, Weizmann Univ. (IL)
• CHARGE Syndrome (not on MeSH)
  • About CHARGE Syndrome and a List of Diagnostic Criteria [Minnow ?]
  • CHARGE Family Support Group in the (UK)
  • Graeme & Lisa's World (CHARGE syndrome) - (CA)
  • CHARGE Syndrome [K Moss, '96] - TSBVI
  • CHARGE Syndrome Foundation, Inc. - (US)
• Nail-Patella Syndrome
  • Nail-Patella Syndrome [A Bates] - (UK)
  • About Nail-Patella Syndrome [C Ferensak]
  • Nail-Patella Syndrome [A. Gandy] - PedBase
  • Nail-Patella Syndrome - MedStudents (BR)
  • Nail-Patella Syndrome and Glaucoma - Kellogg Eye Center
• Noonan Syndrome
  • Noonan Syndrome Information & Resources - NS Support Group, Inc. (US)
  • Noonan Syndrome - I.B.I.S
  • Noonan Syndrome 1 - OMIM (US)
• Twins, Conjoined
  • About Twin Biology - Modern Culture & Media, Brown Univ. (US)
  • Siamese Twins, Craniothoracopagus [picture] - WebPath, Univ. of Utah (US)
  • Siamese Twins, Thoracopagus [picture] - WebPath, Univ. of Utah (US)
  • A Social History of Conjoined Twins [exhibition] - Mütter Museum, Philadelphia
• Jacobsen Syndrome (not on MeSH)
  • The 11q Research & Resource Group - U.S.A.
  • European chromosome 11q network - (NL)
  • The Fragile Web Site - Royal London Medical School (UK)
  • About Jacobsen Syndrome [OMIM; McKusik] - NCBI (US)
• Monosomy 9p- (not on MeSH)
  • 9P- syndrome (Alfi's syndrome) Network [R&T Rosenheim]
• Trisomy 9 (not on MeSH)
  • Trisomy 9 Int'l Parent Group [B & A Todd]
  • The Trisomy Listserv [Karen & Sue]
• Distal Trisomy 10q (not on MeSH)
  • Distal Trisomy 10q Families
• Freeman-Sheldon Syndrome (not on MeSH)
  • The Freeman Sheldon Parent Support Group
• Chromosome Abnormalities
  Chromosomal Disorders [M Kugler; links] - About.Com
  Chromosomal Abnormalities [karyotypes] - Utah School of Med. (US)
  Unique - Support Group for Rare Chromosome Disorders Human Chromosomal Abnormalities including a Glossary of Terms [D O'Neil] - Palomar College
  About some Rare Chromosome Disorders - Unique
  SERGG Cytogenetic Database of Chromosomal Abnormalities - Southeastern Regional Genetics Group (US)
  Introduction to Chromosome Abnormalities - CDO (US)
  The Trisomy Web Ring
  Chromosome 3 Registry
  Chromosome Abnormality Data Bases - Human Genome Mapping Project (UK)
  A report of Sex Chromosome Abnormalities Found Among 34,910 Newborn Children in Denmark - Birth Defects '91
  
  • Angelman Syndrome
    • Angelman Syndrome Information - UK Support Group via F van Hof (NL)
    • Angelman Syndrome Foundation, USA
    • The Australian Angelman Syndrome Association
    • Angelman Syndrome [Williams]
    • Angelman Syndrome - GeneClinic, U of Washington (US)
    • Our World of Angels and Orchids [the Schroeter family] - (AU)
    • Case of the Month, Dec 97 - U of Wisconsin/Waisman C (US)
  • Beckwith-Wiedemann Syndrome
    • Beckwith-Wiedemann Syndrome [MR Nieves] - Pediatric Bulletin
  • Cri-du-Chat Syndrome
    • Cri-Du-Chat Syndrome Support Group - (UK)
    • Lauren's Cyber Home [L Hall]
    • The 5p- Society
    • Cri du Chat Support Group of Australia
    • Associazione Bambini Cri du Chat - (IT)
    • About Cri-du-Chat Syndrome [OMIM; McKusik] - NCBI (US)
    • Chromosome 5 deletion [karyotype] - Utah School of Med. (US)
    • Cri-du-Chat karyotype - Med Coll. of Wisconsin (US)
  • de Lange Syndrome
    • Cornelia de Lange Syndrome Foundation, Inc. - (US)
    • CdLS (Cornelia de Lange Syndrome) Online Support Group
    • Jessica's Place (CdLS) - (US)
  • Fragile X Syndrome (Martin-Bell syndrome)
    • About the Fragile X Syndrome - FRAXA Research Foundation (US)
    • FAQs about Fragile X Syndrome [R. Hagerman] - via The Arc (US)
    • Fragile I Research Foundation of Canada
    • About Fragile X Syndrome - Cold Spring Harbor Lab. (US)
    • The Nat'l Fragile X Foundation - (US)
    • Fragile X Association of S California - (US)
    • Fragile X Syndrome [A Hutchins] - (UK)
    • About Fragile X Syndrome - Public Health Genetics (UK)
    • Fragile X Syndrome - Recognition in Young Children - Pediatric Bulletin
    • Sindrome di Martin Bell [in Italian] - InformaGene
    • Fragile X Syndrome - GeneClinic, U of Washington (US)
    • FMR1 Gene - NCBI (US)
    • Testing for Fragile X - GeneCare, Inc. (US)
  • Prader-Willi Syndrome
    • Prader-Willi Syndrome Association - (US)
    • Prader-Willi syndrome: Genes, Brain, and Behavior [MW State] - JAACAP, June '00
    • Prader-Willi Syndrome - PedBase
    • Prader-Willi Syndrome - GeneClinic, Washington (US)
    • Prader-Willi Syndrome Arizona Assoc. - (US)
  • Rubinstein-Taybi Syndrome
    • About Rubinstein-Taybi Syndrome [Baxter & Wardlow] - (US)
    • Rubinstein-Taybi Syndrome [A. Gandy] - PedBase
    • Rubinstein-Taybi Syndrome - HealthWise
    • Rubinstein Syndrome [OMIM; McKusik] - NCBI (US)
    • Rubinstein-Taybi syndrome caused by mutations ... [Petrij et al]
  • Klinefelter's Syndrome
    • Understanding Klinefelter Syndrome [R Bock] - NICHD/NIH (US)
    • Klinefelter Syndrome and Associates Home Page - Roseville, CA (US)
    • Klinefelter's Syndrome [booklet] - Turner Center (DK)
    • American Association for Klinefelter Syndrome Information and Support
    • Klinefelter Syndrome Support Group [S Schwarz?] - (US)
    • Klinefelter Syndrome? or XXY?
    • Deutsche Klinefelter-Syndrom Vereinigung e.V. - Bielefeld (DE)
    • Klinefelter's Syndrome Club UK
    • Brief Note On KS and Chromosomal Aneuploid - U of Arizona (US)
    • Klinefelter Syndrome karyotype - GSLC
  • Ectodermal Dysplasia
    • The US Nat'l Foundation for Ectodermal Dysplasias
    • About Hypohidrotic (Anhydrotic) Ectodermal Dysplasia - PedBase, and an image, oral - Univ of Iowa,
  • Holoprosencephaly
    • Holoprosencephaly [S Sehgal] - Cedars-Sinai
    • The Independent Holoprosencephaly Support Site
    • The Carter Centers for Brain Research
  • Trisomy 13 (Patau Syndrome; not on MeSH)
    • Support Organization for Trisomy 18, 13 and Related Disorders - S.O.F.T.
    • Information about Trisomy 13 - Ask Dr Greene
    • A Case of Trisomy 13 [M Perry]
    • Trisomy 13 karyotype [in Portuguese] - U. of Saõ Paulo (BR)
    • The Trisomy Listserv [Karen & Sue]
    • Patau syndrome karyotype - Med Coll. of Wisconsin (US)
  • Chromosome 16 Abnormalities (not on MeSH)
    • DOC - Disorders of Chromosome 16 support group
  • Chromosome 18 Abnormalities (not on MeSH)
    • The most frequent abnormalities of chromosome 18 and about Growth Hormone Deficiency and Chromosome 18 Abnormalities [Hale and Cody], from the Chromosome 18 Registry & Research Society - San Antonio, TX (US)
    • Some Genetic Disorders Linked to Chromosome 18 [links to OMIM records]
    • Trisomy 18 Syndrome - Adam, via MedlinePlus
    • About Trisomy 18 Syndrome [A. Gandy] - PedBase
    • The Trisomy Listserv [Karen & Sue]
    • Tetrasomy 18p [J McGing]
  • Down Syndrome
    • Down Syndrome Health Issues [L Leshin] - San Francisco
    • How to Treat People with Down Syndrome [S. Trumble] - (US)
    • The TRISOMY 21 Foundation - (US)
    • DownsNet - (UK)
    • Down Syndrome on the Internet
    • The US Nat'l Down Syndrome Society - New York
    • Japan Down Syndrome Network - (JP)
    • The Down Syndrome Family Empowerment - (US)
    • About the Triple Marker Test [GR DeVore] - Fetal.com
    • Growth Charts for Children With Down Syndrome [G Richards]
    • Facial features [image] - WebPath, Univ. of Utah (US)
    • About Trisomy 21 [OMIM; McKusik] - NCBI (US)
    • Karyotype of Trisomy 21 [Wendin et al] - Cytogenetics Gallery, U of Washington (US)
    • The DNA sequence of human chomosome 21 [Hattori et al.] - Nature, May '00
  • XYY Karyotype
    • XYY Males - An Orientation [booklet] - Turner Center (DK), and an image of the karyotype 47,XYY - Washington Univ./Pathol.
    • XYY -- Stereotype of the Karyotype [ER Friedlander]
  • Turner's Syndrome
    • The Turner's Syndrome Society of the U.S.
    • Endocrinology and Turner's Syndrome - The Endocrine Society (US)
    • About Turner's Syndrome, and Treatment with Natural Estrogen [booklet] - Turner Center (DK)
    • Turner's Syndrome Society, TX - San Antonio-Austin/TX (US)
    • About Turner Syndrome - MAGIC Foundation
  • Triple-X Females (not on MeSH)
    • Triple-X Females - An Orientation [booklet] - Turner Center (DK)
    • Triplo-X Syndrome [Sherman, Koss & Gordon?]
• Wolf-Hirschhorn Syndrome (not on MeSH)
  • About Wolf-Hirschhorn (4p-) Syndrome [L Bentley]
• Musculoskeletal Abnormalities
  • About Craniofacial Anomalies [N. Feldstein] - Pediatric Surgery, CPMCnet (US)
  • About some Craniofacial Anomalies - FACES/Nat'l Craniofacial Assoc. (US)
  • Dental, Oral and Craniofacial Genetic Diseases/Disorders - NIH (US)
• Costello Syndrome (not on MeSH)
  • Costello Kids and Helaina's Page - (UK)
  • About the Costello Syndrome [OMIM; McKusik] - NCBI (US)
• Velocardiofacial Syndrome (Shprintzen Syndrome; not on MeSH)
  • Velo-Cardio-Facial Syndrome Links - Family Village/Wisconsin (US)
  • About Velo-Cardio-Facial Syndrome [D&S Marchette]
  • Chromosome 22 Related Disorders - (CA)
  • Case of the Month, July 97 - U of Wisconsin/Waisman C (US)
  • Research on Velo-Cardio-Facial Syndrome and related 22q11 syndromes - CAP/Stanford U. (US)
• Cat Eye Syndrome (not on MeSH)
  • Chromosome 22 Central (Chr 22 related disorders)
  • Cat Eye Syndrome - OMIM
• Larsen Syndrome (not on MeSH)
  • About Larsen Syndrome, Recessive [OMIM; McKusik] - NCBI (US)
  • Oscar and Anne Dean's homepage (Larsen Syndrome) - (NO)
  • About Larsen Syndrome, Dominant [OMIM; McKusik] - NCBI (US)
• Laurence-Moon Syndrome
  • Laurence-Moon-Bardet-Biedl Syndrome - UMDS (UK)
  • About Laurence-Moon-Bardet-Biedl Syndrome [M Erbland] - (CA)
  • Laurence-Moon-Bardet-Biedl Syndrome: Clinical Features [M Morris]
  • An online support group for Laurence-Moon-Bardet-Biedl Syndrome affected people [S McCoy]
• Smith-Magenis Syndrome (not on MeSH)
  • About Smith-Magenis Syndrome - University of Kansas Medical Center (US)
  • A Case of Smith-Magenis Syndrome - Special Child
  • Smith-Magenis Syndrome: Report of Two Cases ... [Al-Qudah et al.] - Annals of Saudi Med, '94
• Beal's Syndrome (not on MeSH)
  • About Olivia - Houston, TX (US)
• Alpha1 Antitrypsin Deficiency (not on MeSH)
  • The Alpha1 Association (Alpha-1 Antitrypsin Deficiency) - (US)
  • The Alpha-1 Support - (UK)
  • AlphaNet and the AlphaOne Foundation
  • Understanding Alpha-1 Antitrypsin Deficiency (pulmonary aspects) - NHLBI/NIH (US)
  • Asociación Española para el Déficit de Alfa 1-Antitripsina [en Español]

copyright KIB
Tor.Ahlenius@kib.ki.se
Karolinska Institute Library, Stockholm, SWEDEN

back to MeSH index page

14 Jun 2001

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