1. DUBOWITZ SYNDROME A definition of dubowitz syndrome, the epidemiology, pathogenesis, clinical features, investigations Category Health Conditions and Diseases dubowitz syndrome......Pediatric Database (PEDBASE); Discipline GEN; Last Updated 6/15/94dubowitz syndrome. DEFINITION A rare disorder characterized by http://www.icondata.com/health/pedbase/files/DUBOWITZ.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 6/15/94 DUBOWITZ SYNDROME DEFINITION: A rare disorder characterized by peculiar facies, infantile eczema, short stature, microcephaly, and congenital pancytopenia. EPIDEMIOLOGY: incidence: rare (40 cases reported worldwide) age of onset: ? newborn (anemia) risk factors: familial - autosomal recessive chrom. #: ? gene: ? M = F PATHOGENESIS: 1. Background etiology is unknown but is considered to be one of at least 4 disorders characterized by congenital pancytopenia other congenital pancytopenias: Dyskeratosis Congenita Fanconi Anemia Shwachman-Diamond Syndrome CLINICAL FEATURES: 1. Anemia aplastic anemia in 10% of patients pallor, lethargy 2. Dysmorphic Features 1. Facies microcephaly with small facies sparse hair shallow, supraorbital ridge prominent/dysplastic ears broad nose micrognathia 2. Ocular blepharophimosis (short palpebral fissures) epicanthal folds telecanthus variable ptosis 3. Musculoskeletal low birth weight/IUGR growth retardation/short stature/failure to thrive 4. Cutaneous

2. Dubowitz Syndrome 1 dubowitz syndrome, a look at the synonyms, a summary and list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome272.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Dubowitz syndrome 1 Synonym dwarfism-eczema-peculiar facies syndrome Summary A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. The phenotype varies from normal growth and head circumference with mild psychomotor retardation and lack of eczema to severe growth and mental retardation, microcephaly, behavioral problems, aplastic anemia, immunological disorders, neoplasms, and eczema Some features of this syndrome are similar to those in Bloom and fetal alcohol syndromes. Major Features Head and neck: Microcephaly, micrognathia, prognathism triangular face, high sloping forehead, craniosynostosis, narrow bifrontal diameter, dolichocephaly, trigonocephaly, small face and narrow face, brachycephaly, large open fontanels, prominent occiput, prominent glabella, flat occiput, and Robin sequence. Ears: Large or small ears, low-set posteriorly angulated ears, hypoplastic helices, anteverted auricles, prominent lower anthelices, folded helices, cup-shaped ears, hypoplastic tragus, and ear or pre-auricular fistulae. Otitis media is frequent. Eyes: Blepharophimosis, blepharoptosis, telecanthus, hypertelorism or hypotelorism, upslanted or downslanted palpebral fissures, epicanthus, arched eyebrows, strabismus, esotropia, microphthalmia, iris coloboma, nystagmus, anisocoria, megalocornea, iris hypoplasia, oculomotor paralysis, astigmatism, blue sclera, deep optic nerve cupping, immature retinal vessels, and tortuosity of retinal vessels.

3. Dubowitz Syndrome Information And Parent Support . What is dubowitz syndrome? . . If your child has been diagnosed with DubowitzSyndrome, please subscribe and join us. How to subscribe. News Announcements http://www.dubowitz.org/

Information Listserv Links Tervetuloa Welkom Welcome ! Fàilte Willkommen Bem Vindo Usoe Oseyo Benvenuti Velkommen Êáëpò Baruch Haba Isten Hozta Bitaemo Beienvenue Sveiki Youkoso Bienvenido Vitejte Välkommen A n overview . . . What is Dubowitz Syndrome? . . . history, diagnosis, clinical features, medical complications, bibliography Dubowitz Family E-mail Discussion Group Support for families is provided through our online E-mail Listserv. If your child has been diagnosed with Dubowitz Syndrome, please subscribe and join us. How to subscribe Dubowitz Day, Part Two took place August 6, 1999 in Salt Lake City, Utah. The clinic day, held in the Research Center at the University of Utah Hospital, included individual consultations for each attending family with Dr. John Opitz and Dr. Giovanni Neri. In addition, two group conferences (including question/answer sessions) were held for all attendees. The day concluded with a dinner sponsored by the University of Utah Dept. of Genetics. The clinic day was arranged and organized by Alexis Poss, Genetics Couselor. Report Transcript of newspaper article featuring one of our children, published in the Tulsa World, January 6, 1999

4. Dubowitz Syndrome dubowitz syndrome information, links to national and international support groups, clinics with genetic counselors and geneticists dubowitz syndrome. dubowitz syndrome Support c/o 106 Verndale St. Warwick, RI 02889 Phone (401)7373138 E-mail http://www.kumc.edu/gec/support/dubowitz.html

Dubowitz syndrome Dubowitz Syndrome Support c/o 106 Verndale St. Warwick, RI 02889 Phone: (401)737-3138 E-mail: flamingo@idf.net Dubowitz Syndrome Information and Parent Support Family site Web site: http://www.dubowitz.org E-mail : bobbie@dubowitz.org or kim@dubowitz.org Also See: Dubowitz Information , Pediatric Database (PEDBASE) Dubowitz Syndrome , National Library of Medicine National organizations information on genetic conditions or birth defects To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised November 30, 2001 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

5. Service Page - Pathologie Information DISEASE dubowitz syndrome, CIM Q87.13, The dubowitz syndrome, firstreported in 1965, is defined as a multiple congenital anomalies http://orphanet.infobiogen.fr/Site/Exp.stm?Lng=GB&Expert=235

6. KinderStart - Health/Medical/Dental : Major Diseases/Conditions : Dubowitz Syndr Rate this Site. dubowitz syndrome. dubowitz syndrome is a malformation syndrome defined by prenatal and postnatal growth http://www.kinderstart.com/healthmedicaldental/majordiseasesconditions/dubowitzs

KinderStart Alta Vista Ask Jeeves Excite Google HotBot GO LookSmart Lycos Webcrawler Adoption Animal Friends Bringing Home Baby Child Development ... Major Diseases/Conditions : Dubowitz Syndrome Web Pages The following links are in English Behavioral and Cognitive Features of Dubowitz Syndrome Children with Dubowitz syndrome are shy, loving, unassuming, and kind. However, extreme hyperactivity and tantrums are frequently mentioned by parents and in the medical literature. Add/View Comments Rate this Site Dubowitz Syndrome Dubowitz syndrome is a malformation syndrome defined by prenatal and postnatal growth retardation, microcephaly, and a characteristic facial appearance. Add/View Comments Rate this Site Facial Facial Characteristics of Children with Dubowitz Syndome The facial appearance is characteristic and present in most patients with Dubowitz syndrome. Add/View Comments Rate this Site Medical problems of Children with Dubowitz Syndrome The most common medical problems, as previously mentioned, are eczema, frequent infections (primarily viral), allergies, vomiting, and chronic diarrhea or constipation. Reviewed below are some of the more unusual and/or consequential medical problems reported in association with Dubowitz syndrome. Add/View Comments Rate this Site Opitz G/BBB syndrome We are a parent-run support network for all individuals and families of children who have Opitz-G/BBB syndrome.

7. Health Library - The synonyms of this disorder with a general discussion and further resources. http://www.laurushealth.com/library/healthguide/IllnessConditions/_showTopic.asp

8. What Is Dubowitz Syndrome? What is dubowitz syndrome? Originally believed to be very rare, it is now thoughtthat dubowitz syndrome may not be as rare as it is underdiagnosed. http://www.dubowitz.org/article.html

Home Information Message Board Listserv ... Links What is Dubowitz Syndrome? D ubowitz syndrome is a malformation syndrome defined by prenatal and postnatal growth retardation, microcephaly, and a characteristic facial appearance. First described in 1965 by Dr. Victor Dubowitz, the condition was further defined by Dr. John Opitz who proposed the designation Dubowitz syndrome It is present at birth and is thought to be caused by a single defective gene. Neither the location of the gene nor the pathogenesis by which the diverse manifestations are produced are yet known. The condition is not caused by anything the parents did or did not do. It is present in the fetus from the beginning of that individual's development. Originally believed to be very rare, it is now thought that Dubowitz syndrome may not be as rare as it is under-diagnosed. As awareness of the syndrome increases, affected individuals are being diagnosed in greater numbers. It is our hope that this material will help to promote public awareness of the syndrome and provide families and others with easily accessible information in layman's terms. Table of Contents First descriptions Diagnosis Defining manifestations Pre- and postnatal growth retardation ... Malignancy, immunodeficiency, and blood abnormalities

9. Dubowitz Syndrome - First Descriptions Extensive information about the syndrome, along with parent support and networking. What Is dubowitz syndrome? (Part 2) http://www.dubowitz.org/first.html

Home Information Message Board Listserv ... NEXT - Diagnosis, defining manifestations What Is Dubowitz Syndrome? (Part 2) First descriptions . . . In 1965, Dr. Victor Dubowitz of the University of Sheffield, England published a paper [31] describing a young girl with pre- and postnatal growth retardation, microcephaly, unusual facial features, and a history of eczema occurring on her face and insides of her knees and elbows. Dr. Dubowitz noted that an older female sibling of the child, who had exhibited a similar facial appearance, had died at 3 months of age. The sister's birth weight had been only 4 lb., and although she had shown no eczema, she did have some webbing between her toes. Based on the similar features of the two siblings, Dr. Dubowitz suggested their condition may represent a distinct and recognizable autosomal recessive syndrome. He went on to compare his patient to a number of other patients described in previous literature, and questioned whether the new condition might represent a variation of a previously described syndrome. In 1971, Dr. John Opitz and Dr. Frank Gross of the University of Wisconsin Medical School, in collaboration with Dr. Robert Gorlin of the University of Minnesota School of Dentistry, published a paper [53] elaborating on the condition described by Dr. Dubowitz through the presentation of three additional patients. Following intensive study, Dr. Opitz concluded that the condition was a distinct and unique genetic syndrome, and proposed the designation of

10. SHWACHMAN-DIAMOND SYNDROME A definition of ShwachmanDiamond syndrome, the epidemiology, pathogenesis, clinical features, investigat Category Health Conditions and Diseases Shwachman Syndrome...... disorders characterized by congenital pancytopenia other congenitalpancytopenias dubowitz syndrome; Dyskeratosis Congenita Syndrome; http://www.icondata.com/health/pedbase/files/SHWACHMA.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 3/15/96 SHWACHMAN-DIAMOND SYNDROME DEFINITION: A rare disorder characterized by exocrine pancreatic insufficiency, metaphyseal dysostosis, and a congenital form of neutropenia (+/- pancytopenia). EPIDEMIOLOGY: incidence: rare (over 200 cases worldwide) age of onset: infancy risk factors: familial - autosomal recessive chrom.#: ? gene: ? PATHOGENESIS: 1. Background etiology unknown but it is considered to be one of at least 4 disorders characterized by congenital pancytopenia other congenital pancytopenias: Dubowitz Syndrome Dyskeratosis Congenita Syndrome Fanconi Anemia considered a rare form of osteochondrodysplasia 2. Genetic Defect CLINICAL FEATURES: 1. Pancreatic Insufficiency first manifestation and apparent early in infancy (mean between 7-9 months of age) malabsorption - steatorrhea, diarrhea, protruberant abdomen, failure to thrive 2. Pancytopenia 1. Neutropenia(>95% of cases) usually detected in infancy or early childhood chronic, intermittent, cyclic skin and mucous membrane infections pneumonia (chronic cough) 2. Anemia (>20% of cases)

11. MedHelp Details about NE dubowitz syndrome Support Group. Includes contact information. http://medhlp.netusa.net/amshc/amshc332.htm

12. Health Library - Dubowitz Syndrome Topic dubowitz syndrome. Citations. Fu FH, et al. (2000). http://www.laurushealth.com/library/healthguide/IllnessConditions/_showTopic.asp

13. Dubowitz Syndrome dubowitz syndrome. Author Doctor Masato Tsukahara Scientific editorProfessor Didier Lacombe. Disease name and synonyms dubowitz syndrome. http://orphanet.infobiogen.fr/data/patho/uk-dubowitz.html

14. DUBOWITZ SYNDROME Features Listed For dubowitz syndrome. McKusick 223370. Blepharophimosis/blepharospasm;Delayed bone age; Eczema/atopic dermatitis; Hypertelorism; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?488

15. Dubowitz Syndrome Articles, Support Groups, And Resources dubowitz syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). dubowitz syndrome. http://www.medhelp.org/HealthTopics/Dubowitz_Syndrome.html

[Health Topics A-Z] A B C D ... Z Dubowitz Syndrome Support Groups: NE Dubowitz Syndrome Support [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

16. Health Library - Dubowitz Syndrome dubowitz syndrome. Synonyms Disorder Subdivisions General Discussion Resources DubowitzSyndrome is inherited as an autosomal recessive genetic trait. Resources. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

17. Health Library - Dubowitz Syndrome dubowitz syndrome. Self Help Clearinghouse. NE dubowitz syndrome Support.Model. 1 group in Rhode Island. Founded 1997 http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29dub

18. Health Library - Dubowitz Syndrome dubowitz syndrome. Self Help Clearinghouse. NE dubowitz syndrome Support.Model. 1 group in Rhode Island. Founded 1997 http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29d

19. Short Description Of Cell Lines. Pathology Dubowitz Syndrome * Version 4.200205, Short description of cell lines. Pathology Dubowitzsyndrome *223370 OMIM record. By selecting the cell line http://www.biotech.ist.unige.it/cldb/pat213.html

20. IMG-1370 Species human; Tissue skin, fibroblast; Pathology dubowitz syndromeAvailable in the following LABORATORY Russian Academy of http://www.biotech.ist.unige.it/cldb/cl2720.html

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