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         Dubowitz Syndrome:     more detail
  1. Dubowitz syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005

61. PHP : Resource Details
dubowitz syndrome Parent Support Network WEHRAHM. Address, 23 E. Dawes AvenueSomers Point, NJ 08244-2714 MapQuest. Phone, 609-823-1206
http://www.php.com/include/agency/agency_item.php?AgencyID=775&where_keywords=

62. Centre For Genetics Education:: Disorder Information And Support
Drash Syndrome Duane Syndrome dubowitz syndrome Dupuytren Contraction DyschondrosteosisDyskeratosis Congenita E Ectodermal Dysplasia EhlersDanlos Syndrome
http://www.genetics.com.au/conditions/main.htm
A Aarskog Syndrome
Achondroplasia
Acoustic Neuroma
Acrocallosal Syndrome
Acromegaly
Adams Oliver Syndrome
Addison Disease
Adrenoleukodystrophy
Agenesis Of Corpus Callosum
Aicardi Syndrome
Alagille Syndrome Albinism Albright Hereditary Osteodystrophy Alexander Disease Alopecia Alpers Syndrome Alpha 1 Antitrypsin Deficiency Alpha-Thalassaemia X Linked Mental Retardation Syndrome Alpha-Thalassemia Mental Retardation Syndrome Deletion ATR 16 Alport Syndrome Alstrom Syndrome Alzheimer Disease *** Amyotrophic Lateral Sclerosis Androgen Insensitivity Syndzrome Anencephaly *** Angelman Syndrome Angioedema Ankylosing Spondylitis Apert Syndrome Aplasia Cutis Congenita Argininosuccinic Aciduria Arthrogryposis Multiplex Asperger Syndrome Ataxia Telangiectasia Autism Autoimmune Lymphoproliferative Syndrome Autoimmune Polyglandular Disease Type 1 B Bannayan Riley Ruvalcaba Syndrome Bardet Biedl Syndrome Bartter Syndrome Batten Disease Beckwith Wiedemann Syndrome Behcet Syndrome Behr Syndrome Bells Palsy Benign Essential Tremor Bipolar Disorder*** Blackfan Diamond Anemia Blepharophimosis Ptosis Epicanthus Inversus Syndrome Bloom Syndrome Borjeson Forssman Lehmann Syndrome Bowel Cancer *** Branchiootorenal Dysplasia Breast Cancer*** C Cadasil Camptomelic Dysplasia Cancer Cardiac Disorders *** Cardio Auditory Syndrome Cardiovascular Disease Carnitine Deficiency Syndromes Carpal Tunnel Syndrome Carpenter Syndrome Cartilage Hair Hypoplasia Cat Eye Syndrome Cavernous Malformations Ccc Syndrome Central Core Disease Cerebellar Agenesis Cerebral Palsy Cerebro Ocul0 Facio Skeletal Syndrome

63. Portal Toolkit Invalid Site URL
syndromes such as Cohen syndrome, Degos disease, and dubowitz syndrome. the second reported case of cataracts in a child with dubowitz syndrome.
http://www.co-ophthalmology.com/pt/re/coophth/fulltext.00055735-200212000-00013.
Sorry, the URL specified, http://www.co-ophthalmology.com:80/pt/re/coophth/fulltext.00055735-200212000-00013.htm , is invalid.

Thank you

64. D - E
dubowitz syndrome. See also Craniofacial Disorders; Growth Disorders. DubowitzSyndrome Parent Support Network. http//dubowitz.org
http://1stnetwork.tripod.com/resources/id16.html
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Search: Lycos Tripod TV, Movie News Share This Page Report Abuse Edit your Site ... Next
First Network's National Resources D - E Home A B C D - E F G H I - J - K ... T - U - V - W - X
If the information you were looking for isn't found here, email First Network Online for additional assistance. Click here to send an email and request additional assistance.
DANDY-WALKER SYNDROME
See also: Hydrocephalus Dandy Walker Home Page http://www.geocities.com/Heartland/Hills/3919/dws.html NINDS Dandy Walker Syndrome Information Page http://www.ninds.nih.gov/health_and_medical/disorders/dandywalker.htm
DARIER DISEASE
See: Ichthyosis
DE BARSEY SYNDROME
DE BARSEY-MOENS-DIERCKS SYNDROME
See: Connective Tissue Disorders
DEAF-BLIND
See also: Hearing Impairments; Visual Impairments Deaf Blind Resources http://dww.deafworldweb.org/int/us/deafblind.html National Family Association for Deaf-Blind http://www.NFAD.org
DEAFNESS
See: Hearing Impairments
DIABETES INSIPIDUS
See also: Autoimmune Disorders The Diabetes Insipidus Foundation, Inc.

65. Skin Dimples
Robinow syndrome SmithLemli-Opitz syndrome dubowitz syndrome Zellweger syndromeX-linked dysmorphic syndrome with mental retardation
http://www.thedoctorsdoctor.com/diseases/skin_dimples.htm
Background Dimples may be a cute trait of your significant other but it sometimes may be a clue to an underlying or associated disease or syndrome. Outline
Disease Associations

Laboratory/Radiologic/Other Diagnostic Testing

Commonly Used Terms

DISEASE ASSOCIATIONS CHARACTERIZATION DIMPLES ASSOCIATED WITH ABERRANT POSITIONING DURING FETAL LIFE Arthrogryposis
Metaphyseal chondrodysplasia
Camptomelic dysplasia
Kyphomelic dysplasia
Mesomelic dysplasia
Hypophosphatasia FACIAL DIMPLES-CHEEKS Familia FACIAL DIMPLES-CHIN Whistling face syndrome
Simosa craniofacial syndrome Weaver syndrome SHOULDER DIMPLES Autosomal dominant dimples 18q deletion syndrome Trisomy 9p Russell-Silver syndrome Popliteal pterygium syndrome SACRAL DIMPLES Spina bifida Bloom syndrome Carpenter syndrome FG syndrome Robinow syndrome Smith-Lemli-Opitz syndrome Dubowitz syndrome Zellweger syndrome X-linked dysmorphic syndrome with mental retardation OTHER Maternal rubella syndrome Joubert's syndrome Caudal dysplasia sequence LABORATORY/RADIOLOGIC/ OTHER TESTS CHARACTERIZATION RADIOLOGIC Indications for imaging cutaneous dimples in the posterior lumbosacral region: Deep dimples Dimples associated with hypertrichosis, hemangiomas, capillary malformations, lipomas, or asymmetric gluteal crease

66. Health Library -
List of diseases starting with D Information From Answers.comABCDEFGHIJKLMNOPQRSTU VWXYZD ercole syndrome. Duane anomaly mental retardation;Duane syndrome; DubinJohnson syndrome; dubowitz syndrome
http://12.31.13.113/library/healthguide/en-us/illnessconditions/topic.asp?hwid=n

67. Link Directory - Finnish Information Center On Mental Retardation
dubowitz syndrome, NORD dubowitz syndrome Information Parent Support dubowitz syndrome 1, Multiple Congenital Anomaly/Mental Retardation (MCA/MR)
http://www.saunalahti.fi/kup/engl/webs_d.html
Finnish Information Center on Mental Retardation
English links
A B C D ... Z
Dandy-Walker Syndrome
Dandy-Walker syndrome (DWS), Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
Dandy-Walker Malformation, eMedicine, Lutfi Incesu

NINDS Dandy-Walker Syndrome Information Page

DANDY-WALKER SYNDROME; DWS, OMIM, Victor A. McKusick
...
Dandy-Walker syndrome (www.whonamedit.com)
Dandy-Walker Malformation with Mental Retardation, Basal Ganglia Disease, and Seizures
Dandy-Walker Malformation with Mental Retardation, Basal Ganglia Disease, and Seizures, OMIM
Darier-White Disease, Morbus Darier
DARIER-WHITE DISEASE; DAR, OMIM
Darier Disease, The Skin Site

The Dariers Disease Resource Site

Keratosis Follicularis (Darier Disease), eMedicine
...
Darier's disease, Whonamedit
Deletion 2p Syndrome
chromosome 2p deletion syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
HOLOPROSENCEPHALY 2; HPE2, OMIM

Holoprosencephaly deletion 2p, Orphanet
SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 3; SIX3, OMIM
Deletion 4q Syndrome
chromosome 4q deletion syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes

68. Dubowitzin Oireyhtymä - Kehitysvammahuollon Tietopankki
dubowitz syndrome 1, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Groups, An email support group for those interested in dubowitz syndrome
http://www.saunalahti.fi/kup/syndroma/dubowitz.htm
Kehitysvammahuollon tietopankki
Kasvun hidastuminen, lyhytkokoisuus ja poikkeavat kasvonpiirteet
Dubowitzin oireyhtymä
Kohdunsisäinen kääpiökasvuisuus Dubowitzin oireyhtymä on hyvin harvinainen sairaus, jota luonnehtii kasvun hidastuminen, lyhytkokoisuus ja poikkeavat kasvonpiirteet. Oireet voivat ilmaantua jo sikiövaiheessa tai heti syntymän jälkeen. Noin puolet oireyhtymään sairastuneista on kehitysvammaisia. Wilroy Tipton ja Summitt (1978) totesivat, että henkisen suorituskyvyn madaltuminen oli ollut useimmiten lievää tai rajatilatasoista. Stanley Jablonskin (1999) mukaan oireyhtymän erikoispiirteitä ovat olleet pienipäisyys, kallon saumojen ennenaikainen luutuminen, korkea otsa ja leveä nenänselkä, poikkeavat silmäkuopat, etäällä toisistaan olevat silmät ( hypertelorismi ) ja riippuluomet sekä luomirakojen ahtaus. Niinikään kasvojen, polvien ja kyynärpäiden syyhyävät punaiset ihoalueet ovat olleet tavanomaisia. Ääni on ollut erikoisen korkea tai käheä. Leuka on ollut usein pienikokoinen ja nielu vajaakehittynyt. Muina oireina on esiintynyt mm. piilokiveksisyyttä, siittimen alahalkioita, valtimoiden poikkeavuuksia, peräaukon epämuodostumista ja lisäkilpirauhasen vajaatoimintaa. Lisäksi infektioalttius, uusiutuvat haavaiset suutulehdukset, lisääntynyt kasvainriski ja luuytimen vaurioituminen sekä valkosolujen niukkuus ovat olleet osa taudinkuvaa.

69. Eye Conditions
Aphakia, Duane Syndrome, Optic Nerve Hypoplasia. Astrocytoma, dubowitz syndrome,Myopia Physiologic. Atrophy of Cones Rods, Ectodermal Dysplasia
http://www.spedex.com/napvi/eye_conditions.htm
National Association for Parents of Children with Visual Impairments (NAPVI)
Eye Conditions
Below is list of all the eye conditions and/or children's visual impairments currently in our database.
NAPVI can refer members to other members whose children have similar impairments, so they can
share their valuable experiences and information regarding these often very rare cases. Achromatopsia Congenital Toxoplasmosis Ocular Albinism Albinism Cortical Blindness Ocular Motor Apraxia Alopecia Cortical Visual Impairment Oculocutaneous Albinism (OCA) Alstrom's Disease De Morsier's Syndrome One-and-a-Half Syndrome Amblyopia Deaf/Blind Optic Atrophy Aniridia Deformed Optic Nerves Optic Glioma Anophthalmia Degenerative Retinal Disease Optic Nerve Aplasia Anorhomia deLange Syndrome (CdLS) Optic Nerve Damage Anterior Segment Dysgenesis Detached Retina Optic Nerve Glioma Aphakia Duane Syndrome Optic Nerve Hypoplasia Astrocytoma Dubowitz Syndrome Myopia Physiologic Ectodermal Dysplasia Persistent Hyperplastic Primary Vitreous Bardet-Biedl Syndrome (Laurence Moon) FEVR Peter's Anomaly Batten's Disease Filicubris Premature Retinopathy Bilateral Anophthalmia Foreal Hypoplasia Orbital Chordoma Bilateral Cataracts Fundus Flavimaculatus Rieger's Anomaly Bilateral Coloboma Glaucoma Retinal Disease Bilateral Ectopia Lentis Hallermann-Streiff Syndrome Retinal Disorder Hermansky-Pudlak Syndrome Retinal Dysplasia Bilateral Micro Ophthalmia Hydrocephalus Retinal Folds Bilateral Optic Nerve Aplasia Hyperopia Retinitis Pigmentosa Bilateral Optic Nerve Hypoplasia

70. Rarelink.net - Diagnoselisten Dubowitz Syndrome
Du er her Hjem Diagnoselisten dubowitz syndrome dubowitz syndrome,dubowitz syndrome, Dubowitz syndrom, dubowitz syndrome.
http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=72

71. Network Of Care
Dual Recovery Anonymous Mental Health (General) dubowitz syndrome dubowitz syndrome Information and Parent Support - dubowitz syndrome. Back to Top
http://sacramento.networkofcare.org/aging/library/articleList.cfm?type=Support G

72. Delayed Development
Down Syndrome; Drug Addiction; Drug Withdrawal Syndrome; dubowitz syndrome;Duchenne Muscular Dystrophy; DyggveMelchoir-Clausen yndrome
http://www.rogerknapp.com/medical/eci.htm
Delayed Development Evaluating children for proper development is sometimes difficult since there is such a wide variety in the rate of different children. Check with your doctor or compare your child with others of the same age. If you have concerns then you should call this Early Childhood Intervention (ECI) line and have your child evaluated. It can't hurt. Satisfy yourself that your child is in the normal range. ECI is paid by the government and can give your child therapy if they are behind the normal range of development or have disabilities. They serve up to age three. ECI services for children:
  • Screenings and assessments, including hearing and vision. Physical, occupational, speech and language therapy. Activities to develop learning and eating skills. assistive technology. moving on to school or other services as needed at age 3 or when graduating from the program. nutritional services. supporting child care or preschool teachers of enrolled children.
ECI services for families:
  • education and counseling.

73. Genetic Conditions List
Drash syndrome Double Y syndrome Duane syndrome dubowitz syndrome. D2 Hydroxyglutaricacidurdia Dysautonomia Dyschondrosteosis. back to top
http://www.agsa-geneticsupport.org.au/conditions_list.html
A-Z LIST OF CONDITIONS REPRESENTED BY AGSA
A B C D ... P Q R S T U ... X Y Z -A- Aarskog syndrome
Achondroplasia
Acid Maltase Deficiency
Acoustic Neuroma
Acrocallosal syndrome
Adams Oliver syndrome
Adrenoleukodystrophy
Aicardi syndrome
Alagille syndrome
Albinism
Alkaptonuria Alpha l Antitrypsin Deficiency Alpha Manniosidosis Alpha Thalassaemia X-Linked Mental Retardation Alport syndrome Alstroms syndrome Amyotrophic Lateral Sclerosis Androgen Insensitivity Angelman syndrome Aniridia Anticardiolipin AB Type Antiphospholipid syndrome Ankylosing Spondylitis Apert syndrome Aspergers syndrome Ataxia -hereditary [back to top] -B- Baller-Gerold syndrome Bannayan-Riley-Ruvalcaba syndrome Baret-Biedl syndrome Bartter syndrome Batten Disease Beckwith-Wiedemann syndrome Behr syndrome Berardinelli syndrome Bilateral Iris Coloboma Bloom syndrome Blount's Disease Borjeson-Forssman-Lehmann syndrome BPES Brown syndrome [back to top] -C

74. 04.26.2004
dubowitz syndrome. dubowitz syndromeSupport groups adress, WWW links dubowitz syndrome Information and Parent Support
http://genetics.rusmedserv.com/catalog/syndlist/
Genetic Catalog
SYNDROMES (alfabetical list)

75. TheFetus.net - Microcephaly -Gianluigi Pilu And Philippe Jeanty
DeSanctisCacchione syndrome (AR). dubowitz syndrome (AR). Fanconi pancytopenia (AR).Focal dermal hypoplasia (XLD). Incontinentia pigmenti (XLD)
http://www.thefetus.net/page.php?id=127

76. TheFetus.net - Broad Thumb-hallux Syndrome -Dominique Thomas, MD, Isabelle Mahil
Very small stature De Lange syndrome, RussellSilver syndrome, Mulibrey nanismsyndrome, dubowitz syndrome, Bloom syndrome, De Sanctis- Cchione syndrome,
http://www.thefetus.net/page.php?id=439

77. Haematologica - E-cases
The dubowitz syndrome a retrospective. J Craniofac Genet Dev Biol Suppl.1985;12836. 18. Dror Y, Freedman MH. Shwachman-Diamond syndrome An inherited
http://www.haematologica.it/e-cases/2003_05/ECR14.htm
Haematologica 2003; 88:(05) ECR14
Medline prev index next T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome
Asher Chanan-Khan, Beata Holkova, Mary Ann Perle, Elsa Reich, C. Daniel Wu, Giorgio Inghirami, Kenichi Takeshita
Correspondence: Kenichi Takeshita MD,
Hematology Division, Department of Medicine, New York University School of Medicine, 550 First Ave, New York, NY 10016 USA.
Phone: 212-263-5466 Fax: 212-263-8444
Abstract Seckel syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism, skeletal defects, mental and prenatal growth retardation. About 50 cases have been reported in the literature. Hematologic abnormalities with associated chromosomal fragility have been noted in about 15% of the reported cases. We report a patient with Seckel syndrome with myelodysplastic features and clonal T-cells in the bone marrow but no evidence of chromosomal fragility. After 5 years of follow-up, this patient remains asymptomatic without any treatment and with stable peripheral blood counts. Introduction Several investigators have reported increased chromosomal fragility (by MMC breakage analysis) in the bone marrow cells of patients with Seckel syndrome and hematologic disorders and have suggested an analogy to the chromosomal fragility syndromes such as Fanconi's anemia. These reports raised the possibility that a mechanism similar to that of FA may be responsible for the pathogenesis of myelodysplasia or acute leukemia in these reported cases of Seckel syndrome .

78. Smith’s Recognizable Patterns Of Human Malformation, 6th Edition
Brachmann–De Lange Syndrome RubinsteinTaybi Syndrome Russell-Silver Syndrome 3-M Syndrome Mulibrey Nanism Syndrome dubowitz syndrome Bloom Syndrome
http://www.intl.elsevierhealth.com/catalogue/title.cfm?ISBN=0721606156

79. Elsevier.com - Smith S Recognizable Patterns Of Human Malformation
De Lange Syndrome RubinsteinTaybi Syndrome Russell-Silver Syndrome Short Syndrome3-M Syndrome Mulibrey Nanism Syndrome dubowitz syndrome Bloom Syndrome
http://www.elsevier.com/wps/product/cws_home/705571
Home Site map Regional Sites Advanced Product Search ... Smith's Recognizable Patterns of Human Malformation Book information Product description Audience Author information and services Ordering information Bibliographic and ordering information Book related information Submit your book proposal Other books in same subject area About Elsevier Select your view SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION
To order this title, and for more information, go to http://www.elsevierhealth.com/title.cfm?ISBN=0721606156
Sixth Edition
By
Kenneth Jones
, MD, Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, CA
Description
The completely revised and updated New Edition of this definitive text?now in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis * minor anomalies and their relevance * clinical approaches to specific diagnoses * and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormality?including occasional associated abnormalities?natural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.

80. IBMFS - Other Bone Marrow Failure Syndromes
failure is not thought to be a major feature of the disease. These includedisorders such as Seckel syndrome, dubowitz syndrome, and Down syndrome.
http://marrowfailure.cancer.gov/OTHER.html
What are the IBMFS disorders?
Other Bone Marrow Failure Syndromes
There are several other inherited bone marrow syndromes which are less common than the ones that are discussed individually on this Website. These diagnoses are usually made by experts in hematology or genetics. Examples include the following disorders: Revesz (abnormal nails, aplastic anemia , and a problem with the retina, or back of the eye), IVIC (named with the initials of the institution which first reported it), WT (after the initials of the first two families reported), radio-ulnar synostosis (the bones of the lower arm are joined together at the elbow), ataxia pancytopenia (unsteady walking and aplastic anemia). There are families with more than one case with bone marrow failure, who do not fit any of the usual categories. Finally, there are other genetic diseases in which bone marrow failure has been reported on rare occasions, but in which bone marrow failure is not thought to be a major feature of the disease. These include disorders such as Seckel syndrome, Dubowitz syndrome, and Down syndrome. Home Cohort Disorders Participate ... Contact Us

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