|
Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities | |
| Alert! Patients 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 |
| The Office of Rare Diseases - NIH (US) | |
| The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations | |
| Information about some rare diseases [a Swedish perspective] - Swedish National Board of Health and Welfare (SE) | |
| M-Power database (rare diseases in children) - Madisons Foundation | |
| A Short History of Mapping [B Mertz] - Access Excellence | |
| Genetic Diseases [links] - Open Directory | |
| GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) | |
| wikigenes [search for genes, chemicals, pathologies, ...] | |
| OrphaNet [rare diseases], and the OrphaNet Journal of Rare Diseases [open access] | |
| On Birth Defects and Developmental Disorders - CDC (US) | |
| The NIGMS Human Genetic Cell Respository - Coriell Institute Medical Research | |
| Clinical Growth Charts - CDC (US) | |
| Prenatal Diagnosis [images; EC Klatt] | |
| Let's Face It - Resources for People with Facial Difference [annotated links] - Lets Face It | |
| I.B.I.S., International Birth Defects Information Systems | |
| On Screening for some Genetic Disorders - Save Babies Through Screening Foundation, Inc | |
| ZYGOTE , about Developmental Biology [S Gilbert] - Swarthmore College, PA (US) | |
| Development of the Human Heart [C. Wellman] - Loyola University (US) | |
| Why Folic Acid is so Important - CDC (US) | |
| On Neural Tube Defects (NTDs) - DUKE Center for Human Genetics (US) | |
| About Neural Tube Defects - Surgical-Tutor (UK) |
| A list of Preventable Causes of Congenital Abnormalities [S Page], 1999 - Medicine Australia/Women's Health (AU) | ||
| Search Jablonski's MCA/MR Syndromes Database , NOTE: no longer maintained, but archived and accessible - NLM (US) | ||
| Cephalic Disorders - NINDS/NIH (US) | ||
| VACTERL association - The Fetus | ||
| Abnormalities of the Hands and Feet in the Fetus: Sonographic Findings [Bromley and Benacerraf] | ||
| Hypoplastic Thumb - Wheeless Online | ||
| Information about Thalidomide - (CA) |
| See another page |
| About the human Chromosome 15 - Wikipedia | ||||
| Angelman Syndrome Information - UK Support Group via F van Hof (NL) | ||||
| Angelman Syndrome Foundation, USA | ||||
| Angelman Syndrome - Socialstyrelsen (SE) | ||||
| The Angelman, Rett, and Prader-Willi Syndrome Consortium | ||||
| The Australian Angelman Syndrome Association | ||||
| Angelman Syndrome - GeneReviews (US) | ||||
| Case of the Month, Dec 97 - U of Wisconsin/Waisman C (US) |
| A case of Oral Cysts and Numerous Skin Lesions (Naevoid Basal Cell Carcinoma) - UPMC (US) | ||||
| Basal Cell Nevus Syndrome - OMIM (US) |
| About Beckwith-Wiedemann Syndrome | ||||
| Beckwith-Wiedemann Syndrome [RJ Ferry] - eMedicine | ||||
| The Beckwith-Wiedemann Syndrome Support Group |
| Usher Syndrome | ||||
| Usher Syndrome - NIDCD/NIH /US) | ||||
| About Usher Syndrome - Boys Town National Research Hospital, NE (US) | ||||
| Usher Syndrome & Other Related Diseases - The Foundation Fighting Blindness (US) | ||||
| About Usher Syndrome - Wikipedia |
| Bloom Syndrome (Congenital Telangiectatic Erythema) [A Bajoghli] - eMedicine | ||||
| On Bloom Syndrome - GeneCards, Weizmann Univ. (IL) |
| CHARGE Syndrome (not on MeSH) | ||||
| The CHARGE Syndrome Canada and a List of Diagnostic Criteria | ||||
| About CHARGE syndrome, and some personal stories - SpecialChild | ||||
| CHARGE Syndrome database record (info may be outdated) - MCA/MR, NLM (US) | ||||
| CHARGE Syndrome [K Moss, '96] - TSBVI | ||||
| CHARGE Syndrome Foundation, Inc. - (US) |
| Pendred/BOR Home Page - Univ of Iowa (US) | ||||
| Branchiootorenal syndrome - GeneReviews | ||||
| A family with Branchio-oto-renal syndrome: clinical and genetic correlations [Pierides et al.] - Nephrol Dialys Transplant, 2002 |
| Cri-Du-Chat Syndrome [H Chen] - eMedicine | ||||
| The UK Cri du Chat Support Group including a Handbook for Parents and professionals | ||||
| About the Cri du chat syndrome (5p deletion syndrome) - Socialstyrelsen (SE) | ||||
| About Cri-du-Chat Syndrome [OMIM; McKusik] - NCBI (US) |
| Cornelia de Lange Syndrome Foundation, Inc. - (US) | ||||
| Cornelia de Lange (Bachmann-de Lange) Syndrome [Tekin and Bodurtha] - eMedicine | ||||
| Cornelia de Lange syndrome - Genetics Home Reference, NLM (US) | ||||
| Cornelia de Lange Syndrome - GeneReviews |
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| Down Syndrome: Health Issues [L Leshin] including a collection of Recommended Down Syndrome Sites on the Internet [L Leshin] | ||||
| Trisomy 21 (Down Syndrome) - UNSW (AU) | ||||
| Down Syndrome Online - Down Syndrome Education International (UK) | ||||
| The US Nat'l Down Syndrome Society - New York | ||||
| About the World Down Syndrome Day, March 21st | ||||
| The Down Syndrome Family Empowerment - (US) | ||||
| Growth Charts for Children With Down Syndrome [G Richards] | ||||
| About Nuchal Translucency - Diagnostic Ultrasound (UK) | ||||
| Nuchal Translucency and Chromosome Abnormalities - Mt Sinai Hosp, Toronto (CA) | ||||
| On Screening for Downs syndrome - BabyCenter | ||||
| Facial features [image; EC Klatt] | ||||
| Non-invasive prenatal diagnosis hits the national news - phg foundation, Jun 2008 | ||||
| About Trisomy 21 [OMIM; McKusik] - NCBI (US) | ||||
| Karyotype of Trisomy 21 [Wendin et al] - Cytogenetics Gallery, U of Washington (US) |
| Chromosome 22 Abnormalities (not on MeSH) | ||||
| The Chromosome 22 Central [all Chr 22 related disorders] - (CA) | ||||
| see also under DiGeorge Syndrome [links] - KIB (SE) | ||||
| About Cat Eye Syndrome - OMIM | ||||
| About the 22q11 deletion syndrome (DiGeorge syndrome, Velo-cardio-facial syndrome, CATCH 22) - Socialstyrelsen (SE) | ||||
| 22q13.3 syndrome (Phelan-McDermid syndrome) [MC Phelan] - Orphanet J Rare Dis, May 2008 | ||||
| Velo-Cardio-Facial Syndrome Educational Foundation , Inc. | ||||
| Velocardiofacial Syndrome [Gothelf and Lombroso] - J Am Acad Child and Adolescent Psychiatry | ||||
| Case of the Month, July 1997 - U of Wisconsin/Waisman C (US) | ||||
| Research on Velo-Cardio-Facial Syndrome and related 22q11 syndromes - CAP/Stanford U. (US) | ||||
| About the Emanuel Syndrome (Supernumurary DER(22) Syndrome) - OMIM |
| About Ectodermal Dysplasia types - US Nat'l Foundation for Ectodermal Dysplasias | ||||
| The Ectodermal Dysplasia Society | ||||
| Hypohidrotic Ectodermal Dysplasia - GHR/NLM (US) | ||||
| About Ectodermal Dysplasia [Shah and Duran-McKinster] - eMedicine | ||||
| Hypohidrotic Ectodermal Dysplasia - Socialstyrelsen (SE) |
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| The Carter Centers for Brain Research | ||||
| Holoprosencephaly photos [Jorde et al.] - Medical Genetics, 2nd ed. |
| Trisomy 9 (not on MeSH) | ||||
| Conditions related to genes on Chromosome 9 - NLM/NIH | ||||
| Trisomy 9 Mosaicism - (CA) | ||||
| Karen's and Mandy's Trisomy On-Line Webpage |
| 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 | ||||
| Patau Syndrome [Best et al.] - eMedicine | ||||
| Patau Syndrome [Jorde et al.] - Medical Genetics/Univ of Utah | ||||
| Karen's and Mandy's Trisomy On-Line Webpage | ||||
| Trisomy 13 karyotype [in Portuguese] - U. of Saõ Paulo (BR) |
| Chromosome 16 Abnormalities (not on MeSH) | ||||
| About Chromosome 16 - GHR/NLM (US) | ||||
| Trisomy 16 Mosaicism - Chromosomal Mosaicism |
| Chromosome 17 Abnormalities (not on MeSH) | ||||
| Conditions related to genes on Chromsome 17 - GHR/NLM (US) | ||||
| On the Potocki-Lupski Syndrome - Baylor College of Medicine |
| Chromosome 18 Abnormalities (not on MeSH) | ||||
| The most frequent abnormalities of chromosome 18 , and about Growth Hormone Deficiency and Chromosome 18q- Abnormality from the Chromosome 18 Registry & Research Society - San Antonio, TX (US) | ||||
| Support Organization for Trisomy 18, 13 and Related Disorders - S.O.F.T. | ||||
| Karen's and Mandy's Trisomy On-Line Webpage | ||||
| Abigail's story: A trisomy 18 journey | ||||
| Trisomy 18 Syndrome (Edward Syndrome) - Adam, via MedlinePlus | ||||
| Trisomy 18 (Edwards Syndrome) - UNSW Embryology (AU) | ||||
| A case of Clenched fist in Trisomy 18 , and some more images - The Fetus | ||||
| Trisomy 18 - UBC (CA) |
| Chromosome 20 Abnormalities (not on MeSH) | ||||
| Conditions related to genes on chromosome 20 - GHR/NLM (US) |
| Incontinentia Pigmenti (Bloch-Sulzberger/Siemens Syndrome) [CH Chang] - eMedicine | ||||
| The Incontinentia Pigmenti International Foundation | ||||
| About the NEMO gene - The Andy Fund (MX) | ||||
| Incontinentia Pigmenti information - NINDS/NIH |
| Laurence-Moon-Bardet-Biedl Network Home Page [M Morris] | ||||
| The Laurence-Moon-Bardet-Biedl Society - (UK) | ||||
| On the history of the Laurence-Moon-Bardet-Biedl Syndrome - (NL) | ||||
| About the Bardet-Biedl Syndrome - Athena Diagnostics Lab. |
| Smith-Magenis Syndrome (not on MeSH) | ||||
| Smith-Magenis Syndrome - PRISMS | ||||
| Smith-Magenis Syndrome [del(17p11.2)] information - (US) | ||||
| A Case of Smith-Magenis Syndrome - Special Child | ||||
| Smith-Magenis Syndrome - OMIM (US) |
| See another page |
| Nail-Patella Syndrome and Glaucoma - Kellogg Eye Center | ||||
| Nail-Patella Syndrome Worldwide |
| The Int'l Lowe Syndrome Association, Inc. |
| Aicardi Syndrome (not on MeSH) | ||||
| Aicardi Syndrome Foundation - (US) | ||||
| Aicardi Syndrome information - NINDS/NIH (US) | ||||
| Aicardi Syndrome [DiFazio and Davis] - eMedicine |
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| About the human Chromosome 15 - Wikipedia | ||||
| Prader-Willi Syndrome Association - (US) | ||||
| The Prader-Willi Alliance of New York | ||||
| Vocational Guidance and Prader-Willi Syndrome - J of Rehabilitation, Jan-Mar 2003 | ||||
| Prader-Willi Syndrome: Genes, Brain, and Behavior [State and Dykens] - J Am Acad Child and Adolescent Psychiatry | ||||
| Prader-Willi sufferers struggle with uncontrollable appetite - ABC News, Apr 2005 | ||||
| The Angelman, Rett, and Prader-Willi Syndrome Consortium | ||||
| Prader-Willi Syndrome - GeneReviews |
| Proteus Syndrome [OMIM; McKusik] - NCBI (US) | ||||
| Proteus Syndrome Foundation - (US) | ||||
| The Joseph Carey Merrick Memorial Site | ||||
| About The Elephant Man [M Kugler] |
| Bannayan-Zonana Syndrome | ||||
| About Bannayan-Zonana Syndrome - The Doctor's Doctor | ||||
| Macrocephaly, Multiple Lipomas and Hemangiomata [OMIM; McKusik] - NCBI (US) |
| Prune Belly Syndrome Network | ||||
| About Prune Belly Syndrome [I Franco] - eMedicine | ||||
| Prune Belly Syndrome - The Fetus |
| About Rubinstein-Taybi Syndrome [Baxter & Wardlow] - (US) | ||||
| Rubinstein Taybi Syndrome Support Group - (UK) | ||||
| Rubinstein Syndrome [OMIM; McKusik] - NCBI (US) |
| Smith-Lemli-Opitz Syndrome [Steiner and Martin] - eMedicine | ||||
| Smith-Lemli-Opitz syndrome - Socialstyrelsen (SE) | ||||
| Smith-Lemli-Opitz Syndrome - GeneReviews | ||||
| Smith-Lemli-Opitz syndrome - Kennedy Krieger Inst., Johns Hopkins (US) | ||||
| Precise cause of Smith-Lemli-Opitz syndrome found [T Sheldon] - BMJ Sep 1998 | ||||
| A 3 week old girl ... [Wang et al] - U of Pittsburgh |
| About Trichothiodystrophy - Keratin.Com | ||||
| On Trichothiodystrophy - humpath.com | ||||
| Amish brittle hair syndrome (TTD) and Tay syndrome (TTD 2) (info may be outdated) [S Jablonski] - MCA/MR Syndromes |
| About Waardenburg Syndrome - Boystown Hospital | ||||
| A 29 year old man with visual symptoms and headaches (Waardenburg Syndrome) - DJO, Harvard (US) | ||||
| The PAX3 Gene (Chromosome 22) - NCBI (US) | ||||
| Waardenburg syndrome - Wikipedia | ||||
| Waardenburg Syndrome Type 1 [OMIM; McKusik] - NCBI (US) |
| Wolf-Hirschhorn Syndrome [H Chen] - eMedicine | ||||
| The UK 4p- Syndrome Support Group | ||||
| About Wolf-Hirschhorn (4p-) Syndrome [L Bentley] |
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| An introduction to Chromosomes - CDO | |||
| How Chromosomes are Labeled - Univ of South Dakota (US) | |||
| Chromosome Disorders registered with Chromosome Deletion Outreach, Inc. | |||
| Chromosome Disorders [M Kugler; links] - About.Com | |||
| Unique: Support Group for Rare Chromosome Disorders , the Little Yellow Book [about chromosomes and rare chromosome disorders] and Collection of Chromosome Disorder Leaflets [membership required] | |||
| Types of abnormalities detectable by cytogenetics - Univ of Wisconsin (US) | |||
| Human Chromosomal Abnormalities including a Glossary of Terms [D O'Neil] - Palomar College | |||
| XYY -- Stereotype of the Karyotype - PathGuy | |||
| The XXYY Project | |||
| About the 49, XXXXY Syndrome | |||
| Tetrasomy and Pentasomy X Syndromes | |||
| The Chromosome Help Station |
| Monosomy 9p- (not on MeSH) | ||||
| 9P- syndrome (Alfi's syndrome) Network [R&T Rosenheim] | ||||
| Monosomy 9P syndrome - OMIM |
| Distal Trisomy 10q (not on MeSH) | ||||
| Distal Trisomy 10q Families [D & L Anderson] - Oregon (US) |
| Jacobsen Syndrome | ||||
| European chromosome 11q network | ||||
| About Jacobsen Syndrome [OMIM; McKusik] - NCBI (US) |
| Pallister-Killian Syndrome (not on MeSH) | ||||
| About Pallister-Killian Syndrome (Tetrasomy 12p) | ||||
| A case of Pallister-Killian Syndrome - The Fetus Net | ||||
| Pallister-Killian Syndrome : Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing [Polityko et al.] - J Histochem Cytochem, 2005 |
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| About the Fragile X Syndrome (Martin Bell syndrome) - FRAXA Research Foundation (US) | |||||
| Fragile X 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) | |||||
| About Fragile X-Associated Tremor/Ataxia Syndrome - Public Health Genetics Foundation (UK) | |||||
| Brief note about the FMR1 Gene and Fragile X Syndrome - NCBI, and about FMR1-Related disorders - GeneReviews | |||||
| Testing for Fragile X - GeneCare, Inc. (US) |
| Triple-X Females (not on MeSH) | |||||
| Triple-X Females - The Turner Center, Risskov (DK) | |||||
| Triplo-X Syndrome [Sherman, Koss & Gordon?] |
| Costello Syndrome (not on MeSH) | |||||
| Costello Kids - (UK) | |||||
| About the Costello Syndrome [OMIM; McKusik] - NCBI (US) |
| Cat Eye Syndrome (not on MeSH) | |||||
| About Cat Eye Syndrome - Wikipedia, and an image (iris coloboma) - MedlinePlus/A.D.A.M. | |||||
| Chromosome 22 Central (Chr 22 related disorders) | |||||
| A video clip about Cat Eye Syndrome [K Moore] - YouTube | |||||
| Cat Eye Syndrome - OMIM |
| Larsen Syndrome (not on MeSH) | |||||
| About Larsen Syndrome, Recessive [OMIM; McKusik] - NCBI (US) | |||||
| The Larsen Syndrome Research Project at Cedars-Sinai (US) | |||||
| About Larsen Syndrome, Dominant [OMIM; McKusik] - NCBI (US) |
| Understanding Klinefelter Syndrome [R Bock] - NICHD/NIH, 1997 (US) | |||||
| Klinefelter Syndrome and Associates Home Page - Roseville, CA (US) | |||||
| American Association for Klinefelter Syndrome Information and Support | |||||
| Klinefelter Syndrome Support Group [S Schwarz?] - (US) | |||||
| Klinefelter Syndrome [Wattendorf and Muenke] - AAFP, 2005 | |||||
| David Brager's story | |||||
| Klinefelter's Syndrome: XXY males [SL Zierler-Brown] - US Pharmacist, 2006 | |||||
| The Klinefelter Syndrom of Ohio - (US) | |||||
| Brief note on KS and Chromosomal Aneuploid - U of Arizona (US) |
| The Turner Syndrome Society of the United States | |||||
| Turner syndrome: Diagnosis and Management [T Morgan] - AAFP, Aug 2007 | |||||
| Turner's syndrome: What to loook for - Society for Endocrinology (UK) | |||||
| Efficacy of Growth Hormone Therapy in Turner's Syndrome [Gault and Donaldson] - via British Soc for Paediatric Endocrinology | |||||
| About Turner Ullrich Syndrome [links] - I.B.I.S. | |||||
| Turner's Syndrome Support Society - (UK) | |||||
| The Turner Syndrome division at the MAGIC Foundation | |||||
| XO syndrome (Morgagni-Turner-Albright Syndrome) database record (info may be outdated) - MCA/MR, NLM (US) | |||||
| Health Supervision for Children With Turner Syndrome [policy statement 2003] and a Turner Syndrome growth curve - AAFP |
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| About Anencephaly - Wikipedia | ||||
| The Anencephaly Support Foundation - (US) | ||||
| The Anencephaly Support List | ||||
| On the Use of anencephalic newborns as organ donors ( Ethical Considerations ) - Canadian Paediatric Soc. 2005, 2008 | ||||
| Anencephaly [picture; EC Klatt] |
| About Conjoined twins , and Parasitic twin - Wikipedia | ||||
| Siamese Twins, Craniothoracopagus , and Siamese Twins, Thoracopagus [pictures; EC Klatt] | ||||
| A Social History of Conjoined Twins [exhibition] - Mütter Museum, Philadelphia | ||||
| Eng and Chang Bunker, The Siamese Twins | ||||
| Health Effects of the Separation of Conjoined Twins - Georgia State Univ. (US) | ||||
| On the separation of Jodie and Mary - Pro+Chioce Forum |
| Freeman-Sheldon Syndrome (not on MeSH) | ||||
| The Freeman Sheldon Parent Support Group | ||||
| Clinical features of the Freeman Sheldon syndrome - Geneva Foundation Med Educ Res (CH) | ||||
| Whistling Face Syndrome - OMIM |
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| Microcephaly - NINDS/NIH (US) | |||||
| On Microcephaly vera - Socialstyrelsen (SE) | |||||
| Microcephaly - Wikipedia | |||||
| Microcephaly Support Group - (UK) | |||||
| Microcephaly - OMIM (US) | |||||
| The Microcephaly Discussion List |
| Noonan Syndrome Information & Resources - NS Support Group, Inc. (US) | |||||
| Noonan Syndrome - I.B.I.S | |||||
| Noonan Syndrome 1 - OMIM (US) | |||||
| About the Noonan Syndrome - Athena Diagnostics Lab. |
| Ochoa Syndrome (Urofacial Syndrome, Hydronephrosis with Peculiar Facial Expression; not on MeSH) | |||||
| A case report of a 5-year-old girl with Ochoa Syndrome [FN Al-Qahtani] - Saudi J Kidney Dis Transplant, 2003 | |||||
| Urofacial (ochoa) syndrome [Ochoa and Gorlin; abstract] - Am J Med Genet 1987 |
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| About Gastroschisis - Center for Fetal Diagnosis and Treatment, Philadelphia (US) | ||||
| Omphalocele and Gastroschisis [JG Glasser] - eMedicine | ||||
| Gastroschisis [pathol., image] - WebPath | ||||
| Outcome of antenatally diagnosed abdominal wall defects [Fratelli et al.; abstract] - PubMed/Ultrasound Obstet Gynecol, 2007 |
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| About Lissencephaly - Wikipedia | |||||
| The Lissencephaly Contact GRoup - (UK) | |||||
| About Lissencephaly, Familial , and Lissencephaly, X-Linked [OMIM; McKusik] - NCBI (US) |
| Schizencephaly | |||||
| About Cephalic disorders - Neurology Channel/HealthCommunities, Inc. | |||||
| About Schizencephaly [Close and Naul] - eMedicine | |||||
| Schizencephaly [patient info sheet] - Christopher A Waslsh Lab. | |||||
| Bilateral Closed-lip Schizencephaly [Baujan & Berlin] - Rainbow Babies & Children Hosp. (US) |
| Robinow Syndrome (not on MeSH) | |||||
| About Robinow Syndrome - Wikipedia | |||||
| Robinow Syndrome Fact Sheet (info may be outdated) - Jablonski's Syndromes Database/NLM (US) | |||||
| Robinow Syndrome (Fetal Face) Foundation - (US) | |||||
| Le Syndrome de Robinow [in French] - (FR) |
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| The sources of symmetry [H Gee] - nature | |||
| A case of Situs inversus - U of Alabama/Radiology (US) | |||
| Situs Inversus Viscerum (large abdominal organs) [OMIM; McKusik] - NCBI (US) | |||
| Situs inversus (iv) Mutation [in mice; Sundberg & Collins] - Jackson Laboratory (US) |
| Ivemark Syndrome (not on MeSH) | |||
| Asplenia with Cardiovascular Anomalies [OMIM; McKusik] - NCBI (US) | |||
| Ivemark syndrome - ivemark.com | |||
| About Asplenia [M Kumar] - eMedicine |
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| A note about Fetal monitoring , and about Fetal blood sampling - Children's Hosp. Wisconsin (US) | ||
| Fetal surgery issues - Fetal Care Center of Cincinnati (US) | ||
| The fetal origins of adult disease [editorial] - BMJ, Feb 2001 |
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| The US Nat'l Organization on Fetal Alcohol Syndrome | |||
| On Fetal Alcohol Syndrome - NIAAA/NIH (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) |
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| The Gene Gateway Workbook - US Dept of Energy | ||
| Medical Genetics, 2nd ed. [Jorde et al.], 2000 | ||
| What Are Genetic Disorders? - Univ of Utah, SOM/Genetics (US) | ||
| Information for Genetic Professionals [links ; D Collins] - KUMC (US) | ||
| Genetic Fact Sheets [and links] from Emory Univ. (US) | ||
| On Mitochondrial Inheritance - Genetic Drift, 1994 | ||
| Mitochondrial Inheritance - Wikipedia | ||
| The HuGE Navigator (genome epidemiology) - CDC US) | ||
| How are disease genes identified? - Access Excellence, and about linking gene : disease, positional cloning - Beynod Discovery | ||
| A list of Genetic disorders - Wikipedia | ||
| Genetics Home Reference , about Genes and Disease and the Online Mendelian Inheritance in Man [OMIM; VA McKusik et al.] - NCBI/NLM (US) | ||
| Human Gene Mutation Database [Cooper et al.] - Cardiff (UK) | ||
| Kim Davis - Can A Genetic Disease Be Cured? - A Mother's Dilemma [case study; MS Hudecki] | ||
| The GeneCards Encyclopedia - Weizmann Institute (IL) | ||
| GeneReviews - NCBI/NLM (US) | ||
| Info on some Genetic Diseases , from the perspective of Preimplantation genetic diagnosis - Tyler Medical Clinic (US) | ||
| Developmental and Genetic Diseases , with images - Geneva Foundation for Medicla Education and Research (CH) | ||
| Search for US Support Groups for various Genetic Conditions - Genetic Alliance | ||
| Genetics Education Center - University of Kansas Medical Center (US) | ||
| The (Genetic) Disorder Zone Archive at Special Child | ||
| Blazing A Genetic Trail - Howard Hughes Med Inst (US) | ||
| On Genetic Disorders [E. Friedlander] - (US) | ||
| Genetic Disorders: The Link to Diet [S Simmons] - CTDS | ||
| Understanding Genetic Testing - Access Excellence | ||
| Genetic Testing Information from GeneCare, Inc. (US) | ||
| EDDNAL: European Directory of DNA Diagnostic Laboratories |
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| About Ataxia Telangiectasia - Immune Deficiency Foundation | |||
| Facts about Ataxia Telangiectasia - US Nat'l Cancer Institute | |||
| About Ataxia Telangiectasia - NINDS/NIH (US) | |||
| The Ataxia-Telangiectasia Society - (UK) | |||
| A-T Project Online [for children] | |||
| Ataxia Telangiectasia [Jozwiak and Janniger] - eMedicine | |||
| Genetic aspects of Ataxia telangiectasia - OMIM | |||
| About the A-T gene - NCBI/NLM |
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| The US Cystic Fibrosis Foundation , and Cystic Fibrosis Worldwide | |||
| Cystic Fibrosis - Wikipedia | |||
| About Cystic Fibrosis , an animated presentation - Dolan DNA Learning Center | |||
| Cystic Fibrosis in the Adult (scroll down --> page 10) [GA do Pico] - PCCU/CHEST (US) | |||
| A collection of articles on Cystic Fibrosis at Cystic Fibrosis Medicine, 2002 | |||
| A Cystic Fibrosis Directory [links] | |||
| Handbook compiled by the Cystic-L service | |||
| Cystic Fibrosis Carrier Testing , 2004 - Emory Univ./Human Genetics (US) | |||
| Sweat Chloride Testing - U of Wisconsin/Pediatrics (US) | |||
| Testing for Cystic Fibrosis , 2004 - GeneCare, Inc. (US) | |||
| Cystic Fibrosis Mutation Database - CF Genetic Analysis Consort. (CA) | |||
| About CF and Ibuprofen - Case Western Reserve Univ., 1997 | |||
| See also under Burkholderia Infections [links] |
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| The International Rett Syndrome Association | |||||
| Association Francaise du Syndrome de RETT | |||||
| Rett Syndrome Association UK | |||||
| About Rett Syndrome - Socialstyrelsen (SE) | |||||
| Rett Syndrome Traced to Defective Gene "Silencer" - HHMI, Sep 1999 (US) | |||||
| Rett Syndrome - WeMove | |||||
| Your daughter has been diagnosed with Rett syndrome [KI Greenblatt] | |||||
| The Angelman, Rett, and Prader-Willi Syndrome Consortium | |||||
| The Indiana Rett Syndrome Group - (US) |
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| About Neurofibromatosis - and more specifically, about NF 1 (von Recklinghausen NF, Peripheral NF) , NF 2 (Bilateral Acoustic NF) , and Schwannomatosis - Children's Tumor Foundation | ||||
| Neurofibromatosis Type 1, NF1 (von Recklinghausen Disease) - OMIM | ||||
| NF2 Crew | ||||
| The Neurofibromatosis Clinic at MGH/Harvard | ||||
| Neurofibromatosis, Inc. - Chicago (US) | ||||
| Neurofibromatosis (NF1, NF2) - DNA Learning Center | ||||
| The Neurofibromatosis Association in the UK | ||||
| Association Neurofibromatoses et Recklinghausen [in French] - Blagnac (FR) | ||||
| NF2 Gene (Chromosome 22) - NCBI (US) |
| Cerebral Gigantism (not on MeSH) | ||||
| Sotos Syndrome - Wikipedia | ||||
| Sotos Syndrome - GeneReviews | ||||
| Sotos Syndrome Home Page - SSSA (US) |
| About Batten Disease - Nat'l Inst. of Neurological Disorders & Stroke (US) | ||||
| The Batten Disease Support & Research Assoc. | ||||
| The Batten Disease Family Association - (UK) | ||||
| Batten Disease Unites Parents, Dog (Tibetan Terrier) Owners [K Levine] - NPR 2007 | ||||
| The Batten Disease/Pediatric Storage Disorders Laboratory - Inst Psychiatry, Kings College, London (UK) | ||||
| Juvenile Batten's Disease - SeeAbility |
| Barth Syndrome (not on MeSH) | ||||
| Barth Syndrome Foundation | ||||
| Barth Syndrome - X-linked Cardiomyopathy and Neutropenia - Clinical Mass Spectrometry Lab., Kennedy Krieger Institute | ||||
| About Barth Syndrome - Kennedy Krieger Institute (US) |
| Currarino Syndrome (not on MeSH) | ||||
| Currarino Syndrome/Triad - OMIM | ||||
| About the Currarino Triad - OrphaNet | ||||
| Amy's Home Page (Currarino Triad) | ||||
| Currarino triad: diagnostic dilemma and a combined surgical approach [Samuel et al.; abstract only] - J Pediatr Surg, Dec 2000 ; via PubMed | ||||
| Images of Currarino Syndrome - Geneva Foundation Med Educ Research (CH) |
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| Werner's Syndrome - NCBI | |||
| Werner syndrome [Janniger and Wozniacka] - eMedicine | |||
| Werner Syndrome - OMIM, NCBI (US) |
| Evaluation and Care of the Normal Neonate (incl Ballard score/Gestational age) - Merck Manual | ||
| Apgar Scoring for Newborns - Childbirth.org (US) | ||
| Apgar Score calculator - MedCALC 3000 | ||
| Newborn Screening using Tandem Mass Spectrometry , and a Newborn Screening Practitioner's Manual - MSRGSNet, Arizona (US) | ||
| Education & Assistance for Parents and Patients from Children's Hosp Med C/Cincinnati OH (US) | ||
| Cochrane Reviews in Neonatology via NICHD/NIH (US) | ||
| Birth Disorder Information Directory [links] | ||
| Child (and Teen) health Topics - MedlinePlus, NLM | ||
| infant: Journal of the Neonatal Nurses Assoc. - (UK) |
| About Amniotic Band Syndrome | |||
| Amniotic Band Syndrome [Goncalves and Jeanty] | |||
| Amniotic Banding [J Smiles] |
| About Twin to Twin Transfusion Syndrome [Zach and Ford] - eMedicine | ||||
| Twin2Twin - (UK) | ||||
| The Twin Twin Transfusion Syndrome Home Page | ||||
| About Acardiac Twin and the TRAP sequence - Fetal Treatment C, UC/SF (US) |
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| Umbilical Hernia in Children - Cincinnati Children's (US) | |||
| About Umbilical Hernias from the North Penn Hernia Institute - (US) | |||
| What is Omphalocele? - Center for Fetal Diagnosis and Treatment, Philadelphia (US) |
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| A Practical Approach to Neonatal Jaundice [Moerschel et al.] - AAFP, May 2008 | ||||
| About Jaundice in Newborn Infants - UpToDate.com | ||||
| Jaundice in Babies - Royal Prince Alfred Hospital (AU) | ||||
| Synopsis of Causes of Neonatal Jaundice - FPNoteBook | ||||
| Jaundice and Dehydration in the Early Discharged Healthy Term Newborn [M Ipp] |
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| About Congenital Syphilis - MedlinePlus/ADAM (US) | |||
| Treatment Guidelines for Congenital Syphilis - CDC, 2006 |
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