DUBOWITZ SYNDROME A definition of dubowitz syndrome, the epidemiology, pathogenesis, clinical features, investigations Category Health Conditions and Diseases dubowitz syndromePediatric 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
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
Extractions: 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.
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/
Extractions: 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.
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
Extractions: 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: To locate a genetic counselor or clinical geneticist in your area: Revised November 30, 2001
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
Health Library - The synonyms of this disorder with a general discussion and further resources. http://www.laurushealth.com/library/healthguide/IllnessConditions/_showTopic.asp
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
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
Extractions: 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
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
Extractions: Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 3/15/96 A rare disorder characterized by exocrine pancreatic insufficiency, metaphyseal dysostosis, and a congenital form of neutropenia (+/- pancytopenia). risk factors: considered a rare form of osteochondrodysplasia 2. Anemia (>20% of cases)
MedHelp Details about NE dubowitz syndrome Support Group. Includes contact information. http://medhlp.netusa.net/amshc/amshc332.htm
Health Library - Dubowitz Syndrome Topic dubowitz syndrome. Citations. Fu FH, et al. (2000). http://www.laurushealth.com/library/healthguide/IllnessConditions/_showTopic.asp
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
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
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 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
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
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
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
