61. Incontinentia Pigmenti Topic - Unified Search Environment Synonyms and Source Vocabularies Incontinentia Pigmenti MSH/MH/D007184blochsulzberger syndrome MSH/EP/D007184 MSH/PM/D007184 MSH/PM/D007184 http://www.use.hcn.com.au/portals/shared/subject.`Incontinentia Pigmenti`/home.h

Incontinentia Pigmenti Topic Tree Definition: A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages. Synonyms and Source Vocabularies: Incontinentia Pigmenti Bloch-Sulzberger Syndrome Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cockayne Syndrome ... Congenital neurologic anomalies

62. MUMS List Of Disorders - B B1A Predominent Cells or Fetal Cells (1); BOR Syndrome (BrachioOto-Renal Blind (490) **; bloch-sulzberger syndrome (Incontinentia Pigmenti) (24) http://www.netnet.net/mums/mum_b.htm

Return to MUMS Home Page MUMS: List of Disorders B Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. B1A Predominent Cells or Fetal Cells (1) BOR Syndrome (Brachio-Oto-Renal Dysplasia) (7) Baller-Gerold Syndrome (Craniosynostosis-Radial Aplasia) (2) Band Heterotropia (12) Bannayan-Riley-Ruvalcaba Syndrome (11) Bannayan-Zonana Syndrome (4) Bardet-Biedl Syndrome (Laurence-Moon) (20) * http://home.talkcity.com/OceanBlvd/iamahawkfan/bardetbeidlsyndrome.html Barrett Esophagus (2) Barth Syndrome (Cardiomyopathy, Hypotonia, Low White Count) (4) www.barthsyndrome.org Basal Cell Carcinoma Syndrome (1) * Basal Cell Nevus Syndrome (1) * Basal Encephalocele (1) Basal Ganglia Infarction (1) Bassen-Kornzweig Syndrome (Abetalipoproteinemia) (2) * Bathing Suit Nevus (4) * Batten Disease (Ceroid Lipofuscinosis) (27) * Batten-Bielschowski-Jansky Disease (2) * Beals Syndrome (Contractural Arachnodactyly) (13) Beckwith-Wiedemann Syndrome (26) * Beckwith Wiedemann Family Forum Behavior Disorder (326) Behcet's Syndrome (1) * www.behcets.cc

63. Pakistan Pediatric Association - Jornal Section - Full INCONTINENTIA PIGMENTI (blochsulzberger syndrome) A case report. Ambrin Aslam*Waqar Ilussain Prof. Sajid Maqbool. * Senior Registrar, Department of http://www.ppa.org.pk/journal/main/full.asp?article_NO=V21N1P45-47

64. Radspace : ¿µ»óÀÇÇб³À° Library Incontinentia Pigmenti Syndrome / About blochsulzberger syndrome. AlternativeNames, Definition, Causes, Incidence And Risk Factors http://bbs.radiology.or.kr/radspace/diseases/index.asp?ID=D001009&page=1

65. Rare Pediatric Disease Database AKA blochsulzberger syndrome 11/30/2004 AKA Continuous muscle fiber activitysyndrome, Neuromyotonia, Isaacs-Merten syndrome, Quantal squander http://www.madisonsfoundation.org/content/3/1/list.asp?mode=listall&letter=I

66. 308300 INCONTINENTIA PIGMENTI; IP blochsulzberger syndrome INCONTINENTIA PIGMENTI, TYPE II, FORMERLY; IP2, FORMERLY Francois, J. Incontinentia pigmenti (bloch-sulzberger syndrome) and http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:308300] -e

67. Index Benign neonatal sleep myoclonus, 6 Bilirubin encephalopathy, 67 Biotinidasedeficiency, 43 blochsulzberger syndrome, 298 Blue sclera, 91 Botulism, 138-139 http://pediatricneuro.com/alfonso/pg311.htm

MainMenu Back A B C D ... W X Y Z A Top Abducens nerve palsy Moebius syndrome, Abscess Abuse, Acid maltase deficiency, Acidemia argininosuccinic, glutaric, type isovaleric, methylmalonic, propionic, Acidosis, lactic, Acute bilirubin encephalopathy, Acyclovir, Adrenoleukodystrophy (neonatal), Agenesis of the corpus callosum, Agenesis of the depressor angularis oris, Agyria, lissencephaly, Aicardi syndrome, Alexander disease, Alloisoleucine, Alpha motor neuron, diseases, Amino acid metabolism disorder, branched-chain amino acids, hyperglycinemia, leucine, urea synthesis, Amniotic band, Ammonia metabolism, Arm monoparesis, Amyoplasia congenita, Antley-Bixler syndrome, Antibiotics for meningitis, Anticonvulsant fetal syndrome, Antiepileptic drugs, Antithrombin III deficiency, Aplasia cutis congenita

68. Abstracts 5 99 A clinical case of the blochsulzberger syndrome in a child is presented. Key words bloch-sulzberger syndrome, children, heriditary diseases, http://www.mediasphera.aha.ru/pediatr/99/5/e5-99ref.htm

Abstracts Russian bulletin of perinatology and pediatrics ¹5 1999 A.D. Tsaregorodtsev, B.A. Kobrinsky Telemedical technologies for teleconsultations and for correspondence postgraduate training of physicians Key words: telemedicine, remote diagnosis, teleconsultations. P.V. Novikov, O.V. Evgrafov DNA diagnosis of hereditary diseases in children of the Russian Federation: State-of-the-art and problems Based on the analysis of the activities of scientific and practical medicogenetical institutions in the Russian Federation and on the data available in the literature, the paper shows the present status of DNA diagnosis of hereditary diseases in children. The available data on DNA diagnosis in the world and in Russia are critically reviewed. A spectrum of hereditary diseases detected by DNA techniques in Russia is given. The existing problems that hamper DNA technologies to be widely introduced into pediatric care are considered. Key words: DNA diagnosis, hereditary diseases, children, medicogenetic aid, medicogenetic service organization. L.A. Nikolskaya

69. Russian Bulletin Of Perinatology And Pediatrics - Abstracts ¹3 2002 The paper describes a case of the blochsulzberger syndrome. Its specific featurewas the presence of multiple developmental defects of the osteomuscular http://www.mediasphera.aha.ru/pediatr/2002/3/e3-02ref.htm

Abstracts Russian bulletin of perinatology and pediatrics ¹3 2002 V.V. Ivanova, N.V. Skripchenko, G.G. Tarasova, Ye.A. Lakotkina, T.V. Chernyaeva, S.M. Kharit Prevention of infectious diseases is a basic trend in the activities of the Research Institute of Childhood Infections, Ministry of Health of Russian Federation (75 years since foundation) The paper presents the results of the research perfomed in the Research Institute of Childhood Infections of prevention of infections diseases. The significance of this research in updating of pediatric service in Russia is assessed. Key words: infections, vaccination, prevention. Ros Vestn Perinatol Pediat 2002;3:7-10 Return to contents T.G. Zakharova, G.N. Goncharova Reproductive health of young mothers and health status of their neonatal infants Author's address: The problems of perinatal fetal care may be considered only by solving those associated with reproductive disorder, in adolescent mothers in particular. The reproductive health of young mothers who enter a child-bearing process is greatly inferior to that of women of favourable reproductive age. They have higher extra-marital birth rates and more common child refusal at a maternity home, they more frequently fall ill with venereal diseases, abuse drugs, have gynecological and extra-genital abnormalities. The health status of adolescent mothers’ neonates is also considerably inferior to those of women of favourable reproductive age. Introduction of up-to-date technologies for assessing and predicting the reproductive health status will assist in improving the diagnosis and treatment of disorders and make an actual contribution to perinatal fetal care.

70. UCLA Department Of Medicine - Wfsection-Incontinentia Pigmenti Without Systemic Landy SJ, Donnai D. Incontinentia pigmenti (blochsulzberger syndrome). J MedGenet 1993 Jan;30(1)53-9. Cohen PR. Incontinentia pigmenti clinicopathologic http://www.med.ucla.edu/modules/wfsection/article.php?articleid=139

71. Bl : On Medical Dictionary Online Bloch Sulzberger Syndrome blochsulzberger syndrome Block, Atrioventricular Block, Autonomic Nerve Block, Bundle-Branch Block, Fascicular http://www.online-medical-dictionary.org/bl.asp?q=~Bl

72. Dorlands Medical Dictionary Medical Dictionary Index B First word blennuria to last word Bloch-Sulzbergersyndrome. bloch-sulzberger syndrome (Bloch-Sulz·ber·ger syndrome) http://www.merckmedicus.com/pp/us/hcp/thcp_dorlands_content.jsp?pg=/ppdocs/us/co

73. Search By Disease blochsulzberger syndrome. 79, Blood groupRhesus system Cc/Ee polypeptide.80, Blood group-Rhesus system D polypeptide. 81, Bls, type II http://www.eddnal.com/directory/disease.php?letter=B&page=6

74. Search By Disease IP, blochsulzberger syndrome. 69, Iridogoniodysgenesis with somatic anomalies.70, ISK. 71, Islets of Langerhans, absence of http://www.eddnal.com/directory/disease.php?letter=I&page=5

75. Gene Expression In Tooth, Note Incontinentia pigmenti (IP, blochsulzberger syndrome). Incontinentia Pigmenti (IP)is a rare multisystem disorder classified as an ectodermal dysplasia http://bite-it.helsinki.fi/LN13.HTM

Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) Incontinentia Pigmenti (IP) is a rare multisystem disorder classified as an ectodermal dysplasia with variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system. The skin of IP patients shows vesicular, verrucous, and pigmented macular lesions. In addition, the patients have dental, ocular, central nervous system, and structural anomalies ( Gorlin et al , 1990). IP is an X-linked dominant disorder and has been shown to be due to mutations in IKK-gamma (NEMO) gene located in Xq28 ( Smahi et al , 2000). The affected individuals are mostly females (97% of the patients). It is assumed that males with the mutation usually do not survive through gestation ( Macey-Dare et al In studies on dental anomalies, over 90% of the patients have hypodontia, mostly classified as severe (6 or more teeth missing), microdontia (generalized microdontia or peg-shaped teeth), macrodontia (extra cusps in the posterior teeth), delayed eruption of permanent teeth, or taurodontism ( Gorlin et al Macey-Dare et al , 1999). Incidence of congenitally missing teeth has been reported to be as high as 43%; in addition, 30% of the patients have conical teeth (

76. Cytogenetics Publications Pal K, Handyside A, Braude P Ogilvie CM (2000) A pregnancy following PGDfor Xlinked dominant incontinentia pigmenti (bloch-sulzberger syndrome). http://www.kcl.ac.uk/depsta/memoge/publications/cytogeneticspublications.html

Cytogenetics Scriven PN (2005) Preimplantation genetic diagnosis for an insertional translocation. (Letter) Hum Reproduct, 20 (6) 1746. guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod, 20 (1) 35-48. Med Genet, 130A (3) 295-298. variants in the RAB3A gene are not associated with autism. Genes Brain Behav, 3: 123-124. Mann K (2004) Prenatal detection of chromosome aneuploidy by quantitative fluorescence-PCR. In: Molecular diagnosis of genetic diseases, 2nd ed. R Elles R Mountford (eds). Totowa: Human Press Inc, 141-156. (Methods in Molecular Medicine, 92.) Mackie Ogilvie C (2003) Prenatal diagnosis for chromosome abnormalities: past, present and future. Pathol Biol Paris, 51, 156-160. Mackie Ogilvie C (2003) Preimplantation genetic diagnosis. (Letter) Lancet, 362 (9379) 250. Ogilvie CM (2003) Uses of error: laboratory diagnosis. Lancet, 361 (9352) 160. Scriven PN (2003) Preimplantation genetic diagnosis for carriers of reciprocal translocations. J Assoc Genet Technol, 29 (2) 49-59. Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CSL, Baird G, Jannoun L, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP, and the International Molecular Genetic Study of Autism

77. GeneTests: Search Results Incontinentia Pigmenti blochsulzberger syndrome. Select the clinical laboratory.Laboratories offering clinical testing http://www.genetests.org/query?testid=2363

78. Syndromes Rares Associés Au Strabisme (Bosnjakovska 1997) Translate this page Résumé Incontinentia pigmenti (syndrome de Bloch-Sulzberger) est une Summary Incontinentia pigmenti (bloch-sulzberger syndrome) is a very rare http://orthoptie.net/jfo/jfo29/bosnjako97.htm

SYNDROMES RARES ASSOCIÉS AU STRABISME (Incontinentia pigmenti et Arthrogryposis congénitale) S. BOSNJAKOVSKA, N. POP-JORDANOVA (Skopje - Macédoine) Résumé : Incontinentia pigmenti (syndrome de Bloch-Sulzberger) est une maladie très rare, caractérisée par des affections du tissu neuroectodermal oculaire et musculo-squelettique. Environ 95% des cas sont observés chez les patients du sexe féminin. Nous rapportons ici un cas extrêmement rare chez un garçon.Outre les altérations cutanées manifestées dès le deuxième jour de la naissance, on a découvert ultérieurement une atrophie du nerf optique de l'oeil gauche ainsi qu'un strabisme du même oeil. A l'âge de six ans, l'enfant présentait des anomalies orthodontiques : absence de cinq dents de lait et de onze dents définitives. Arthrogrypose congénitale est aussi un syndrome rare, caractérisé par la contracture des articulations et des troubles hétérogènes vastes. Nous présentons ici le cas d'une fille âgée de 10 ans. En dehors des troubles principaux, elle manifeste aussi un strabisme, un nystagmus, une amblyopie et un ptôsis. Mots clés : Incontinentia pigmenti, atrophie optique, strabisme, anomalies orthodontiques, arthrogrypose, ptôsis

79. Eyes And Vision - Genetics Home Reference blochsulzberger syndrome see incontinentia pigmenti; Brittle bone diseasesee osteogenesis imperfecta; Broad Thumb-Hallux Syndrome see Rubinstein-Taybi http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/eyesandvision

Home What's New Browse Handbook ... Search Browse Browse Conditions By Name By Category Browse Genes By Symbol By Full Name By Category Browse Chromosomes Eyes and vision With the recent advances in molecular genetic techniques, new genes that cause eye disease are being identified. In many instances, these findings allow researchers to develop innovative strategies for preventing or slowing the progress of genetic eye diseases. Alport syndrome Anderson-Warburg syndrome see Norrie disease Arthro-ophthalmopathy, hereditary progressive see Stickler syndrome, COL2A1 Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type Atrophia bulborum hereditaria see Norrie disease Bartholin-Patau syndrome see Patau syndrome biotinidase deficiency Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti Bloch-Siemens syndrome see incontinentia pigmenti Bloch-Sulzberger Syndrome see incontinentia pigmenti Brittle bone disease see osteogenesis imperfecta Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency Chromosomal imbalance syndrome, pair 13, trisomy

80. Skin, Hair, And Nails - Genetics Home Reference biotinidase deficiency BirtHogg-Dubé syndrome; bloch-sulzberger syndromesee incontinentia pigmenti; Bourneville Disease see tuberous sclerosis http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/skinhairandnails

Home What's New Browse Handbook ... Search Browse Browse Conditions By Name By Category Browse Genes By Symbol By Full Name By Category Browse Chromosomes Skin, hair, and nails The skin is the largest organ in the body. A sizeable number of genetic disorders affect the skin, hair, and nails. A-T see ataxia-telangiectasia AAT see alpha-1 antitrypsin deficiency alpha-1 antitrypsin deficiency Arachnodactyly see Marfan syndrome Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type ataxia-telangiectasia BHD see biotinidase deficiency Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti Bloch-Siemens syndrome see incontinentia pigmenti Bloch-Sulzberger Syndrome see incontinentia pigmenti Bourneville Disease see tuberous sclerosis Bourneville Phakomatosis see tuberous sclerosis Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency CEP see congenital erythropoietic porphyria cerebral sclerosis see tuberous sclerosis Chondroectodermal Dysplasia see Ellis-van Creveld syndrome Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, classical type

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