81. SEMERC: Information Services: Glossary: D dubowitz syndrome. Features include growth deficiency, high pitched and hoarsecry, mild microcephaly, small face with small jaw, widely spaced eyes with http://www.semerc.com/information_services/a_z/d.asp

Search our online shop SEMERC Information Services: Glossary : D The SEMERC Glossary is kindly provided by David Fulton Publishing. Click on a letter to jump to the appropriate page. A B C D ... Z Dandy-Walker Syndrome Hydrocephalus and enlargement of the head due to the presence of cysts in the fourth ventricle of the brain. In some cases the enlarged head is apparent at birth, in others the head is normal at birth with rapid enlargement occurring in the first year. Features include: prominent occiput and brow, slow psychomotor development. In some cases: seizures, lax muscle tone. Early surgical treatment can sometimes result in normal development. Autosomal recessive inheritance. (See also Hydrocephalus) Deaf/Blind (See Dual Sensory Impairment) Deep Tendon Reflex The involuntary response of muscle to an external stimulus which results from the state of mild contraction of muscle when at rest, e.g. the jerk of the knee when the tendon of its muscle is tapped. Nervous system disorder may result in loss of reflexes or in an excessive reaction. Deficiency Disease (See Disease) Degenerative Disease (See Disease) De Grouchy Syndrome or 18p- Syndrome (See Chromosome Abnormality Syndromes) De Lange Syndrome (See Cornelia De Lange Syndrome) Deletion of Chromosomes (See Chromosome Abnormality; Chromosome Abnormality, Nomenclature; Chromosome Abnormality Syndromes)

82. The MAGIC Foundation Down Syndrome. dubowitz syndrome CPP. Dyggve Melchior Clausen. Dyslexia ResearchSociety International Dyslexia Association. Edwards Syndrome http://www.magicfoundation.org/www/docs/111/rare_disorders.html

Members Only Hypophosphatasia Failure to Thrive Networking ... Rare Disorders Rare Disorders Alphabetically listed, Please scroll down to view. The MAGIC Foundation is always expanding to meet the needs of many diversely affected people. In addition to the more prevalent syndromes detailed throughout this site, we also have families and/or affected people with the other medical conditions (partial listing below). This list is constantly changing and has some links to other support organizations which we have no one networked for. We have supplied them here for your easy referal. If you need more information pertaining to the conditions on this page, feel free to contact us. If you would like to network with families we have associated with these conditions, please contact our office. If you are a medical professional and have patients with these diagnoses, feel free to mention our networking to them. If you do not see your disorder listed, please contact our office for the most up to date listing. 6p25 Chromosome Deletion/ Riegers Anomly (Syndrome) Aarskog

83. Diagnosis Drash syndrome. dubowitz syndrome. Duchennes muscular dystrophy. Dysarthria.Dyslexia. Dysphasia. Dyspraxia. Dystonia. Elective mutism. Encephalitis http://www.dolphinhumantherapy.com/Diagnosis/diagnosis.htm

DIAGNOSES TREATED BY DOLPHIN HUMAN THERAPY Each year Dolphin Human Therapy sees approximately 350 families and conducts about 4,000 therapy sessions. By the end of 2003, DHT had completed about 40,000 therapy sessions. Ninety five percent of those who come for therapy are children, below the age of 18. Most of the children are under 10 years old. DHT has worked with families from 39 states and 60 countries. The disabilities listed below include most of the diagnoses of the children. Since many children are dually diagnosed and diagnostic criteria may vary slightly between countries, precise numbers of children for each diagnosis are not possible. It is accurate to say that the incidence of any diagnosis at DHT appears to be consistent with the incidence of that diagnosis within the disabled or handicapped population. The most common diagnoses are cerebral palsy, autism and Down syndrome. What DHT parents say... Diagnosis What DHT parents say...

84. A Novel Developmental And Immunodeficiency Syndrome Associated With Intrauterine Other syndromes such as dubowitz syndrome were rapidly excluded because thesesyndromes dubowitz syndrome review of 141 cases including 36 previously http://pediatrics.aappublications.org/cgi/content/full/113/1/136

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: ISI Web of Science (3) PubMed PubMed Citation Articles by Bernard, F. Articles by Casanova, J.-L. Related Collections Related AAP Red Book topics: Cytomegalovirus Infection PEDIATRICS Vol. 113 No. 1 January 2004, pp. 136-141 EXPERIENCE AND REASON A Novel Developmental and Immunodeficiency Syndrome Associated With Intrauterine Growth Retardation and a Lack of Natural Killer Cells ABSTRACT TOP ABSTRACT CLINICAL REPORTS DISCUSSION REFERENCES Objective. To describe a novel syndrome characterized by severe prenatal and postnatal growth failure, mild skeletal and facial abnormalities, and primary immunodeficiency. Design. The syndrome was observed in 2 sisters. The elder child died of cytomegalovirus infection when she was 18 months old

85. DARS Early Childhood Intervention Services 779.5, Drug Withdrawal Syndrome. 759.89, dubowitz syndrome. 359.1, Duchenne MuscularDystrophy. 756.4, DyggveMelchior-Clausen Syndrome (DMC Dwarfism) http://www.dars.state.tx.us/ecis/resources/diagnoses.asp?letter=d

86. Casi Clinici - Novembre 2000 Translate this page 3) Tsukahara M, Opitz JM dubowitz syndrome review of 141 cases including 36 4) Wallenstein R, Kacmar J, Anderson CE et al dubowitz syndrome in a boy http://www.medicoebambino.com/elettroniche/archivio/ARCH2000/CL/CL11000.htm

P.E. Contributi originali - Casi clinici - Novembre 2000 CASI CLINICI Sindrome di Dubowitz con reflusso vescico-ureterale e agenesia renale. Confronto con le sindromi da instabilità cromosomica Borrelli A, Festa R UO Pediatria, Azienda Ospealiera Moscati, Avellino Descrizione di un caso di sindrome di Dubowitz (ipostaturalità, microcefalia, iperattività, lieve deficit di intelligenza, fisionomia sui generis, capelli radi, ptosi palpebrale) associata a agenesia renale. Il caso viene confrontato con altre sindromi genetiche, in ispecie con la sindrome di Bloom e con la sindrome di Nijmegen, tutte caratterizzate, come la Atassia-Teleangectasia e la sindrome di Fanconi, da fragilità cromosomica. Il caso Arriva alla nostra osservazione, per diarrea protratta, all'età di 7 anni, una bambina con una sindrome dismorfica caratterizzata da bassa statura (116 cm= 5°centile) e basso peso (22Kg=10° centile), microcefalia (cc cm 46,5cm), ritardo psicomotorio lieve, con iperattività, eczema agli arti, capelli radi. L'esame dimorfologico dimostra:  fronte sfuggente, ptosi palpebrale SN, mento appuntito, mandibola ipoplasica, impianto basso delle orecchie. Gli esami generali sono tutti negativi. L'insieme viene inquadrato come sinrome di Dubowitz La bambina non è al suo primo ricovero: in precedenza, era già stata visitata per convulsioni febbrili, all'età di un anno, e poi, a 6 anni, per disturbi minzionali, correlati ad una infezione urinaria. In quelle occasioni, accanto ai segni del ritardo mentale, dell'iperattività, dell'eczema e della microcefalia, che avevano suggerito una patologia sindromica, peraltro non ancora definita,  era stata constatata una agenesia del rene dx e un reflusso di III grado a sinistra (ecografia, scintigrafia, cistouretrografia minzionale)

87. List Of Topics Already Taken For 323 (Updated As Of Feb.24th 2003 Sotos syndrome holoprosencephaly Marfan Syndrome dubowitz syndrome LandauKleffnerSyndrome osteogenesis imperfecta Tuberous Sclerosis Coffin-Siris Syndrome http://athena.uwindsor.ca/units/leddy/2002.nsf/0/88466aa362a98d0985256cb000039a8

88. A Listing Of Disorders Duane Syndrome. Dubin Johnson Syndrome. dubowitz syndrome. Duhring Disease.Duodenal Atresia or Stenosis. Dyggve Melchior Clausen Syndrome http://medschool.umaryland.edu/BTBank/Family/Disorders_D.htm

Brain and Tissue Bank University of Maryland, Baltimore D Dandy Walker Malformation Darier Disease De Barsy Syndrome De Santis Cacchione Syndrome Degos Disease Dejerine Sottas Disease Depression Dercum Disease Dermatomyositis Devic Disease Dextrocardia with Situs Inversus Diabetes, Insulin Dependent Diaphragmatic Hernia Diastrophic Dysplasia Diencephalic Syndrome DiGeorge Syndrome Dilatation of the Pulmonary Artery, Idiopathic DOOR Syndrome Down Syndrome Dracunculosis Drash Syndrome Duane Syndrome Dubin Johnson Syndrome Dubowitz Syndrome Duhring Disease Duodenal Atresia or Stenosis Dyggve Melchior Clausen Syndrome Dysautonomia, Familial Dyschondrosteosis Dyskeratosis Congenita Dyslexia Dysphonia, Chronic Spasmodic Dysplasia, Epiphysealis Hemimelica Dysplasia, Fibrous Dysplastic Nevus Syndrome Dystonia Dystonia, Blepharospasm Dystonia, Torsion Dystrophy, Asphyxiating Thoracic Dystrophy, Myotonic

89. MUMS List Of Disorders - D - E Down Syndrome, 2 or 3 Siblings with (6); Duane Syndrome (eye disorder) (14) *;Duane Syndrome Type III (eye disorder) (2) *; dubowitz syndrome (15) http://www.netnet.net/mums/mum_d-e.htm

Return to MUMS Home Page MUMS: List of Disorders D - E Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. D-2Hydroxyglutaric Aciduria (2) DOORS Syndrome (4) DPT (damage from vaccine) (306) * Dandy-Walker Syndrome (68) * Darier Disease (1) * Darrow-Gamble Syndrome(Congenital Chloride Diarrhea) (1) * De Barsy Syndrome (lacking elasticity in skin) (2) DeMorisier Dysplasia Olfactorgenitalis (Kallmann Syndrome) (5) * Deaf/Blindness (71) * www.deafblindinfo.org Deaf/Blindness from Polio Vaccine (1) * Deafness (195) * Deafness-Pili-Torti, Bjornstad Type (1) Degos disease (Malignant Atrophic Papulosis) www.degosdisease.com Dejerine-Sottas Disease (Sensory Motor Neuropathy III) (6)* Delleman-Oorthuys Syndrome (1) Dentatorubral-Pallidoluysian Atrophy (DRPLA) (1) Dermatitis, Atopic (1) Dermatomyositis (15) * Desanctis-Cacchione Syndrome (Xeroderm Pigmentosum) (7) Developmentally Delayed (2735) * http://groups.yahoo.com/group/childdevdelays/ Dextrocardia (heart on right side) (34) * Dextrocardia with Situs Inversus (organs backward) (13) Dextrocardia-Bronchiectasis-Sinusitis Syndrome (Kartagener) (11) DiGeorge Syndrome (49) ** DiGeorge Syndrome and Klinefelter Syndrome (1) Diabetes, Gestational (5) *

90. CANAVAN DISEASE dubowitz syndrome. dubowitz syndrome Parent Support Network. PO Box 2441.Vincennes, IN 47591. (812) 8860575. (812) 886-1128 (fax). bobbie@dubowitz.org http://www.as.wvu.edu/~scidis/organizationC_D.html

CANAVAN DISEASE The Canavan Research Foundation Fairwood Professional Building New Fairfield, CT 06812 (203) 746-3205 (fax) canavanresearch @aol.com http://www.canavan.org/ CANCER American Cancer Society 1599 Clifton Rd. NE Atlanta, GA 30329-4251 (404) 982-3676 (fax) http://www.cancer.org Canadian Cancer Society 10 Alcorn Ave., Ste. 200 CAN M4V 3B1 Toronto, ON (416) 961-4189 (fax) ccs@cancer.ca http://www.cancer.ca Candlelighters Childhood Cancer Foundation 3910 Warner St. Kensington, MD 20895 (301) 962-3520 (phone/fax) info@candlelighters.org http://www.candlelighters.org Childhood Cancer Foundation-Candlelighters Canada 55 Eglinton Ave E, Ste. 401 CAN M4P 1G8 Toronto, ON (800) 363-1062 (Canada only) (416) 489-9812 (fax) staff@candlelighters.ca http://www.candlelighters.ca -Turcot Syndrome CELIAC DISEASE Canadian Celiac Association 5170 Dixie Rd, Ste 204 CAN L4W 1E3 Mississauga, ON (800) 363-7296 (Canada only) (905) 507-4673 (fax) celiac@look.ca http://www.celiac.ca Celiac Disease Foundation 13251 Ventura Blvd. #1 Studio City Los Angeles, CA 91604-1838 (818) 990-2379 (fax) cdf@celiac.org

91. Chin Med J (Taipei) 1997;59:199-203. (Cockayne Syndrome With Tetralogy Of Fallot Donahue syndrome, dubowitz syndrome, and Seckel syndromes were characterized bylow birth weight and dwarfism, while delayed bone age was noted by all of http://www.vghtpe.gov.tw/~cmj/5903/590310.htm

Next Prev Abs Chi ... Home Chin Med J (Taipei) 1997;59:199-203. Cockayne Syndrome With Tetralogy of Fallot: A Case Report Choun-Seng Choong , Kiew-Lian Liew , Yung-Feng Huang , Pao-Ching Chiu , Kai-Sheng Hsieh Department of Pediatrics, Jen-Ai General Hospital, Pingtung, and Department of Pediatrics, Veterans General Hospital Kaoshiung, Taiwan, R.O.C. Abstract Cockayne syndrome (CS) is a rare auto-somal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities. This is a description of a three-year-old boy with typical features of Cockayne syndrome complicated with tetralogy of Fallot, pneumonia and hepato-splenomegaly. He had been suffering from frequent attacks of pneumonia and had been hospitalized for several times since birth. Tetralogy of Fallot was diagnosed under echocardiography study and he died suddenly in hospital during a mydriatic procedure in the Ophthalmologic Clinic. [Chin Med J (Taipei) 1997;59:199-203.]

92. Rarelink.net - Diagnoselisten Dubowitz Syndrom Du er her Hjem Diagnoselisten Dubowitz syndrom dubowitz syndrome,dubowitz syndrome, Dubowitz syndrom, dubowitz syndrome. http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=72

93. Dubowitz, Syndrome De Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/FR/dubowitz.html

Accès à la base de données Orphanet Dubowitz, syndrome de Accès direct aux détails Résumé Signes de la maladie BLEPHAROPHIMOSIS CHEVEUX RARES/HYPOTRICHIE/ATRICHIE HYPERTELORISME MICROCEPHALIE PETITE TAILLE / NANISME PHONATION ANOMALIE / CRI FAIBLE OU AIGU PTOSIS REBORD ORBITAIRE PLAT RETARD DE CROISSANCE INTRA-UTERIN RETROGNATHISME/MICROGNATHISME TELECANTHUS TRANSMISSION AUTOSOMIQUE RECESSIVE TROUBLES DU COMPORTEMENT AGE OSSEUX RETARD ECZEMA EPICANTHUS NEZ LARGE/ARETE NASALE LARGE PIED ANOMALIE RETARD MENTAL / PSYCHO-MOTEUR SACRO-COCCYX ANOMALIE TESTICULE ECTOPIE/CRYPTORCHIDIE ANEMIE ANUS ANOMALIE DENTS ERUPTION TARDIVE DIARRHEE CHRONIQUE / MALABSORPTION FENTE PALATINE LEUCOCYTES ANOMALIE/NEUTROPENIE LYMPHOME SYNDACTYLIE DES ORTEILS THROMBOPENIE Mise à jour : 04/09/2005 Accès à la base de données Orphanet

94. Health Library - 12.42.224.150/library/healthguide/enus/SelfHelp/t ICH Slides CollectionClinical Pictures dubowitz S syndrome. Subjects Search, ( Click on picture toenlarge ). G.IV.7, G.IV.8. http://12.42.224.150/library/healthguide/en-us/illnessconditions/topic.asp?hwid=

95. The Original Ring Of Special Needs Children 36. dubowitz child Join Date January 02, 2003 family homepage, becca has dubowitzsyndrome{;}. 37. God s Special Angels Join Date January 02, 2003 http://www.ringsurf.com/netring?ring=spneed;id=146;action=next5

96. Genetic Conditions / Rare Conditions Information Site Lay advocacy groups, support groups, information on genetic conditions and birthdefects for professionals, educators and individuals. Disorders from AZ. http://www.kumc.edu/gec/support/

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z Revised September 2, 2005 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

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