Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by KOSAKI, K. Articles by MATSUO, N. Related Collections Genetics J Med Genet e19 ( September ) E DITOR In approximately 10% of patients with Silver-Russell syndrome, pre- and postnatal growth retardation with relative macrocephaly, triangular facies, and asymmetry is associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). The purpose of this report is to present a novel assay to diagnose UPD(7)mat by analysing the methylation status of PEG1/MEST , the only known imprinted gene on chromosome 7
Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by MONK, D. Articles by MOORE, G. E Related Collections Genetics J Med Genet e11 ( April ) E DITOR Silver-Russell syndrome (SRS) is a condition characterised by pre- and postnatal growth restriction, triangular facies, and limb and truncal asymmetry. The aetiology of the syndrome is heterogeneous and there is no clearly established Mendelian basis. A number of chromosomal abnormalities are associated with the SRS phenotype in a minority of cases. To date, 37 cases of
Hill Health Topics A-Z List: I : Health Topics Intrauterine device (IUD) for birth control intrauterine dwarfism Intrauterinefetal blood transfusion for Rh disease Intrauterine Synechiae http://www.healthwise.net/hillhealth/Find/list.aspx?LETTER=I&FILTER=Health Topic
All Showcase - Health Disease And Health Conditions Interstitial Cystitis (21). Intestinal Flu (10). Intracranial Hypotension (1).intrauterine dwarfism (4). Iritis (19). Irritable Bowel Syndrome (46) http://www.allshowcase.com/Health_and_Fitness/Conditions_and_Diseases/I/
The World Diseases A 2 Z Names By Countrylinks And Dr Impex intrauterine dwarfism. Iritis. Irritable Bowel Syndrome. J. Jacobsen Syndrome.Jock Itch. Joint Disorders. Joubert Syndrome. Juvenile Rheumatoid Arthritis http://www.countrylinks.biz/diseases.htm
Dubowitz Syndrome 1 Summary, A syndrome of intrauterine dwarfism, short stature, mental retardation,sparse hair, eczema, and characteristic facies. The phenotype varies from 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.
Login Am J Med Genet 6210 15 First citation in article PubMed; Russell A (1954) Asyndrome of intrauterine dwarfism recognizable at birth with craniofacial http://dx.doi.org/10.1086/302717
I Health, Directory intrauterine dwarfism Impulse Control Disorders Imperforate Hymen Incontinence Isaacs Syndrome Insulin Resistance http://www.lila-ilab.org/bGlfNDMzNTE=.aspx
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: April 4, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: disproportional short stature, short stature, dwarfism, osteochondrodysplasias, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, achondrogenesis, chondrodysplasia punctata, homozygous achondroplasia, chondrodysplasia punctata, camptomelic dysplasia, congenital lethal hypophosphatasia, perinatal lethal type of osteogenesis imperfecta, short-rib polydactyly syndromes, hypochondroplasia, rhizomelic type of chondrodysplasia punctata, Jansen-type metaphyseal dysplasia, spondyloepiphyseal dysplasia congenita, atelosteogenesis, diastrophic dysplasia, congenital short femur, Langer-type mesomelic dysplasia, Nievergelt-type mesomelic dysplasia, Robinow syndrome, Reinhardt syndrome, acrodysostosis, peripheral dysostosis, Kniest dysplasia, fibrochondrogenesis, Roberts syndrome, acromesomelic dysplasia, micromelia, Morquio syndrome, Kniest syndrome, metatrophic dysplasia, spondyloepimetaphyseal dysplasia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
Seckel's Syndrome (www.whonamedit.com) Seckel s syndrome An intrauterine form of dwarfism. Also known as Harperssyndrome,Seckel s bird head syndrome,Seckel s nanism,VirchowSeckel syndrome. http://www.whonamedit.com/synd.cfm/869.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. An intrauterine form of dwarfism characterized by proportional short stature, reduced circumference of the cranium, a characteristic bill-like protrusion of the central area of the face with microcephaly, prominent sometimes beaked nose, large ears, sparse hair, joint defects, clubfoot, trident hands, absence of some teeth, cloacalike malformation of genitourinary tract and rectum, mental retardation and sweet disposition. A small, simplified cerebrum resembles the chimpanzee brain (pongidoid microcephaly. There is a reduction in the number of blood cells. Both sexes affected; present at birth. Inheritance is autosomal recessive. There has been described a case in which all the features of the syndrome were present, but not the dwarfism. This could be an incomplete form or a variant of the syndrome.
Taybi-Linder Syndrome (www.whonamedit.com) A syndrome of intrauterine growth retardation characterized by dwarfism, lowbirth weight, cerebral dysgenesis, and bone dysplasia. http://www.whonamedit.com/synd.cfm/3414.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
Dwarfism - Short Stature dwarfism and short stature information, links to national and international Transition to Adult, intrauterine Growth Retardation, Hypothyroidism, http://www.kumc.edu/gec/support/dwarfism.html
Russell-Silver Syndrome For families with children who have Russell Silver intrauterine growth dwarfism / short stature resources, University of Kansas Medical Center http://www.kumc.edu/gec/support/russell.html
Evaluation Of Stillbirth (Intrauterine Fetal Demise) Evaluation of intrauterine Fetal Demise. on the AP film or to define bonessuspected or known to have a structural anomaly If dwarfism is present, http://www.obfocus.com/SanGabriel/guidelines/iufd.htm
Extractions: Evaluation of the Stillbirth Translate The purpose of this guideline is to help identify high risk populations and aid in the development of risk-reducing interventions. In addition it is hoped that families will be provided with information about the cause of death, as well as emotional guidance. Stillbirth may be suspected when the mother ceases to feel fetal movement, and the obstetrician is unable to hear fetal heart tones. When the question of fetal death arises during labor, an internal fetal monitor can be applied to the presenting part. Maternal cardiac electrical activity can be transmitted through a dead fetus, however, so the rate and rhythm on the tracing should be compared with those of the mother. BACKGROUND Data from the National Center for Health Statistics showed a fetal mortality rate of 6.5 per 1000 births in 2001 [1]. Risk factors associated with stillbirth [1,2-4] Maternal age (both high and low) Unmarried status Male fetal sex Multiple gestation.
