41. Arch Pediatr Adolesc Med -- Abstract: Male-to-male Transmission Of Robinow's Syn Maleto-male transmission of Robinow s syndrome. Its occurrence in association with robinow syndrome Patton and Afzal J. Med. Genet. 2002;39305-310. http://archpedi.ama-assn.org/cgi/content/abstract/136/7/594

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 136 No. 7, July 1982 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager Articles in PubMed by Shprintzen RJ Sidoti EJ Articles that cite this article Contact me when this article is cited Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate R. J. Shprintzen, R. B. Goldberg, P. Saenger and E. J. Sidoti The inheritance of Robinow's syndrome has been thought to be autosomal dominant. However, since no cases of male-to-male transmission have been reported, it has been impossible to rule out X-linked dominant inheritance. We studied a case of male-to-male transmission in a father and son with Robinow's syndrome and cleft lip-cleft palate, confirming autosomal

42. Karger Publishers robinow syndrome; Nuchal translucency; First trimester We present 2 caseswith robinow syndrome in a nonconsanguineous Turkish couple. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowAbstract&ProduktNr=

43. %180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT An autosomal recessive form of robinow syndrome (268310) has been shown to becaused by The recessive robinow syndrome tended to be more severe. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:180700] -e

44. 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE A recessive form of robinow syndrome was suggested by the reports of (1989)described robinow syndrome in a child of a consanguineous Turkish couple. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:268310] -e

45. Indian Pediatrics - Editorial of upper limbs and characteristic facies in robinow syndrome. robinow syndromeis a mesomelic short limbed dwarfism characterized by abnormal morphogenesis http://www.indianpediatrics.net/jan2004/jan-89.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2004; 41:89 Robinow Syndrome An 8-year-girl, a product of consan-guinity, presented with short stature. She had mesomelic dwarfism specially in upper limbs with small hands and short fingers with clinodactyly. The facies was characterized by large head, frontal bossing, hypertelorism, wide palpebral fissure, short upturned nose with anteverted nares, long philtrum, triangular mouth and small chin. ( Fig. 1 ). Radiological survey revealed hemivertebrae in mid thoracic region and fusion of few ribs, bifid terminal phalanges in hands. A diagnosis of Robinow syndrome was made. Fig. 1. Short stature, mesomelia specially of upper limbs and characteristic facies in Robinow syndrome. Robinow syndrome is a mesomelic short limbed dwarfism characterized by abnormal morphogenesis of face, hypoplastic genitalia (small or absent penis, hypogonadism, cryptorchidism, hypoplasia of clitoris and labia minora) and skeletal anomalies. Duplication of kidney and hydronephrosis are occasionally present. Cardiac anomalies constitute part of the syndrome and include right ventricular outflow tract obstruction. Developmental delay and mental retardation occur in about 18% of cases. Early death secondary to pulmonary and cardiac complication occur in 10 per cent of patients. The gene for autosomal recessive type of Robinow syndrome is located at chromosome 9q 21-23 region.

46. Bioline International Official Site (site Up-dated Regularly) Although the incidence of robinow syndrome is about 1500000, robinow syndromereport of one case. Chung Hua Min Kuo Hsiao Erh Ko I Hsueh Hui Tsa Chih http://www.bioline.org.br/request?jp02015

47. Bioline International Official Site (site Up-dated Regularly) Images in Medicine robinow syndrome Hosalkar HS, Gerardi J, Shaw BA. Abstract.A 10-year Hispanic girl, born of unrelated parents (first child of a http://www.bioline.org.br/abstract?id=jp02015&lang=en

48. Online And Offline Support: R robinow syndrome. robinow syndrome Foundation. People served Individuals andfamilies dealing with robinow syndrome; Services provided Information and http://www.widesmiles.org/support/r.html

R Robinow Syndrome Robinow Syndrome Foundation People served: Individuals and families dealing with Robinow Syndrome Services provided: Information and support Address: P.O. Box 1072, Anoka MN 55303 Phone number: (763) 434-1152 Email Address: kmkruger@comcast.net Contact person: Karla Kruger Romberg Syndrome/Parry-Romberg Syndrome The Rombergs Connection and The Romberg's Connection Annex People served: Individuals dealing with Rombergs Syndrome Services provided: Information and support Email address: rombergs@hotmail.com Main Website: http://www.geocities.com/HotSprings/1018/ Annex Website: http://www.geocities.com/HotSprings/Spa/4818/ Rubinstein-Taybi Syndrome Please note: Children, teens, and adults with Rubinstein-Taybi Syndrome have specific facial features that do not require reconstructive surgery. Rubinstein-Taybi Parent Group (RTPG) People served: Parents of children with Rubinstein-Taybi Syndrome Services provided: Support, parent-matching, information, and newsletter Address: PO Box 146, Smith Center KS 66967 Phone number: (785) 697-2984 Contact people: Garry and Lorrie Baxter Email address: lbaxter@ruraltel.net

49. One Gene, Two Phenotypes: ROR2 Mutations In Autosomal Recessive Robinow Syndrome and autosomal dominant brachydactyly type B.Autosomal recessive Robinowsyndrome (RRS) with almost identical features to recessive robinow syndrome. http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/9768939.html

One gene, two phenotypes: mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. The gene encoding receptor orphan receptor tyrosine kinase 2 ) is located on chromosome 9q22 and homozygous loss-of-function mutations in this gene are responsible for RRS. Moreover, knocking out the mouse gene causes mesomelic dwarfism in the homozygous state, with almost identical features to recessive Robinow syndrome The protein product of this gene is a cell membrane receptor, containing distinct motifs including an immunoglobulin-like (Ig) domain, a Frizzled-like cysteine-rich domain (FRZ or CRD), and a kringle domain (KD) in the extracellular region; and an intracellular region with tyrosine kinase (TK), serine/threonine-rich, and proline-rich structures. The extracellular motifs of the protein are known to be involved in protein-protein interactions.

50. Recessive Robinow Syndrome, Allelic To Dominant Brachydactyly Type B, Is Caused Recessive robinow syndrome, allelic to dominant brachydactyly type B, The autosomal recessive form of robinow syndrome (RRS; MIM 268310) is a severe http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/8371405.html

Recessive Robinow syndrome , allelic to dominant brachydactyly type B, is caused by mutation of .The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly and a dysmorphic facial appearance. We previously mapped the gene mutated in RRS to chromosome 9q22 (ref. 4), a region that overlaps the locus for autosomal dominant brachydactyly type B (refs 5,6). The recent identification of , encoding an orphan receptor tyrosine kinase, as the gene mutated in brachydactyly type B (BDB1; ref. 7) and the mesomelic dwarfing in mice homozygous for a lacZ and/or a neo insertion into (refs 8,9) made this gene a candidate for RRS. Here we report homozygous missense mutations in both intracellular and extracellular domains of in affected individuals from 3 unrelated consanguineous families, and a nonsense mutation that removes the tyrosine kinase domain and all subsequent 3' regions of the gene in 14 patients from 7 families from Oman. The nature of these mutations suggests that RRS is caused by loss of activity.

51. CSH/Sjældne Handicap/Korte/Robinow Syndrom robinow syndrome Foundation har en hjemmeside med information om syndromet.Se endvidere Jablonski s Syndrom database, hvor der er referencer til http://www.csh.dk/sjaeldne_handicap/korte/robinow_syndrom.html

Robinow syndrom (Fetal face syndrome) Medfødt misdannelse, der oftest er dominant arvelig men kan være recessiv. Sygdommen viser sig ved speciel ansigtsform (fremstående pande, vidtstillede øjne), korte arme og ben (dværgvækst) og - hos drenge - underudviklet eller manglende penis. Efter puberteten sker der en vis udvikling af penis, og samleje er oftest mulig. Mental udviklingshæmning kan forekomme. Kirurgisk behandling kan komme på tale. Livslængden er normal. Totalt antal i Danmark: 10 Kilde: Mendelian Inheritance in Man, 12th ed., no. 180700. Birth Defects Encyclopedia, 1990, s. 1499. CSH 110599 /jesh Mere viden: Undersøgelse / vejledning: Center for Sjældne Sygdomme Århus Universitetshospital Brendstrupgårdsvej 100 8200 Århus N John Østergaard Kontakt til andre: Center for Små Handicapgruppers kontaktordning er et tilbud til mennesker med sjældne sygdomme og handicap, som ikke har en forening eller andet netværk i Danmark at henvende sig til. Via kontaktordningen tilbyder vi at formidle kontakt mellem personer eller familier, der lever med samme sjældne handicap. Der findes ingen kontaktperson for dette syndrom. Hvis du ønsker at være kontaktperson, kan du tilmelde dig på

52. EMedicine - Skeletal Dysplasia : Article By Harold Chen, MD, MS, FAAP, FACMG Child with robinow syndrome. Note moderate short stature, flat facial profile (fetalface–like appearance), short forearms, and small hands. http://www.emedicine.com/ped/topic625.htm

(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 Skeletal Dysplasia 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 Author: Harold Chen, MD, MS, FAAP, FACMG

53. Opera Directory The synonyms of robinow syndrome, a summary and a list of major features. NORDrobinow syndrome. Offers a general discussion, the synonyms and further http://portal.opera.com/directory/?cat=552293

54. PHP : Resource Details ,We are a little group of families reaching out for one another s......robinow syndrome Support Group Website, http//www.robinow.org/. http://www.php.com/include/agency/agency_item.php?AgencyID=2056&where_keywords=

55. Arthritis Research Campaign | Grant Detail Page Understanding skeletal defects in the robinow syndrome. Summary of Research.robinow syndrome is a genetic disorder in humans and people with this syndrome http://www.arc.org.uk/research/grantdet.asp?Code=F0563

56. Mutation Of The Gene Encoding The ROR2 Tyrosine Kinase Causes Autosomal Recessiv robinow syndrome is a shortlimbed dwarfism characterized by abnormal Haplotypes containing the putative robinow syndrome mutation are boxed. http://www.nature.com/ng/journal/v25/n4/full/ng0800_423.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/78113 Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome Hans van Bokhoven , Jacopo Celli , Ellen van Beusekom , Sevim Balci , Wim Brussel , Flemming Skovby , Bronwyn Kerr , E. Ferda Percin , Nurten Akarsu Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands. Department of Pediatrics, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Turkey. Division of Clinical Genetics, Institute of Child Health, Haceteppe University, Ankara, Turkey. Department of Pediatrics, Rijnstate Hospital, Arnhem, The Netherlands. Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark. Regional Genetics Service, Manchester Children's Hospital, Manchester, UK.

57. Andrew Wilkie Recessive robinow syndrome, allelic to dominant brachydactyly type B, is causedby loss of function mutations in ROR2. Nature Genet 25 419422 http://www.imm.ox.ac.uk/pages/research/clinical_genetics/one.htm

Andrew Wilkie Molecular genetics of craniofacial and limb malformation eval(unescape('%76%61%72%20%73%3D%27%61%6D%6C%69%6F%74%20%3A%77%61%6C%69%69%6B%40%65%61%68%6D%6D%72%65%69%2E%6D%6D%6F%2E%2E%78%63%61%75%2E%6B%27%3B%76%61%72%20%72%3D%27%27%3B%66%6F%72%28%76%61%72%20%69%3D%30%3B%69%3C%73%2E%6C%65%6E%67%74%68%3B%69%2B%2B%2C%69%2B%2B%29%7B%72%3D%72%2B%73%2E%73%75%62%73%74%72%69%6E%67%28%69%2B%31%2C%69%2B%32%29%2B%73%2E%73%75%62%73%74%72%69%6E%67%28%69%2C%69%2B%31%29%7D%64%6F%63%75%6D%65%6E%74%2E%77%72%69%74%65%28%27%3C%61%20%68%72%65%66%3D%22%27%2B%72%2B%27%22%3E%61%77%69%6C%6B%69%65%40%68%61%6D%6D%65%72%2E%69%6D%6D%2E%6F%78%2E%61%63%2E%75%6B%3C%2F%61%3E%27%29%3B')) LABORATORY MEMBERS Andrew Wilkie Chris Babbs Elena Bochukova Dominic Furniss Anne Goriely Ruth Hansen Indira Taylor Steve Twigg About 1 in 40 babies is born with a serious congenital abnormality: in many cases, this is caused by alterations (mutations) in genes involved in the normal process of embryonic development. Many important malformations affect both the skull and limbs, suggesting that similar developmental processes are used to build these distinct structures. Our lab is investigating these processes by identifying the causative mutations in patients with skull and limb malformations. Such individuals frequently require corrective surgery and the group collaborates with the Department of Plastic Surgery in Oxford in the investigation of their patients. The work is mainly funded by the Wellcome Trust.

58. Poster 316 - Mutations In ROR2 Which Give Rise To Autosomal Recessive Robinow Sy The Autosomal Recessive form of robinow syndrome (RRS) is a severe skeletaldysplasia with generalised limb bone shortening, segmental defects of the spine, http://hgm2001.hgu.mrc.ac.uk/Abstracts/Publish/WorkshopsPoster/WorkshopPoster10/

HGM2001 Poster Abstracts: 10. Disease Mechanisms POSTER NO: 316 Mutations in ROR2 which give rise to autosomal recessive Robinow syndrome Ali R. Afzal Nagwa A. Meguid, Michael A. Patton, Steve Jeffery Medical Genetics Unit, St George’s Hospital Medical School, London Human Genetics Department, National Research Centre, Cairo, Egypt. The Autosomal Recessive form of Robinow syndrome (RRS) is a severe skeletal dysplasia with generalised limb bone shortening, segmental defects of the spine, brachydactyly and a dysmorphic facial appearance. Previously we mapped and identified the gene mutated in RRS, and this is ROR2, located on chromosome 9q22. ROR2 encodes an orphan receptor tyrosine kinase and mutations in this gene are also responsible for brachydactyly type B, which is an autosomal dominant condition. We studied different probands from consanguineous families and found homozygous missense mutations and also a nonsense mutation in this gene in these patients. In the present study we present new mutations identified in this gene and discuss the possible mechanism by which these mutations cause autosomal recessive Robinow syndrome. Other abstracts in same session

59. Birth Disorder Information Directory - R robinow syndrome. Recessive Form. See Covesdem Syndrome. RobinowSorauf Syndrome.See Acrocephalopolysyndactyly, Robinow-Sorauf Type http://www.bdid.com/defectr.htm

HOME R Rachischisis Rachischisis of the Spinal Cord Neural Tube defects - Pediatric Pathology (Includes a Photo) Iniencephaly with Rachischisis - Pediatric Pathology (Includes a Photo) Iniencephaly with Rachischisis and Encephalocele - Pediatric Pathology (Includes a Photo) Radiodigitofacial Dysplasia See Van Goethem Syndrome Radioreno-Ocular Syndrome See Acrorenoocular Syndrome Ramer Ladda Syndrome (Brachydactyly Deafness Skeletal Anomalies) brachydactyly deafness skeletal anomalies Ramon Syndrome (Cherubism Gingival Fibromatosis Mental Retardation) Cherubism gingival fibromatosis mental retardation RAMON SYNDROME Ramos Arroyo Clark Syndrome (Corneal Anesthesia Deafness Mental Retardation) Corneal anesthesia deafness mental retardation Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation Rapp Hodgkin Syndrome (Ectodermal Dysplasia, Anhidrotic, with Cleft Lip and Cleft Palate) ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE Reardon Wilson Cavanagh Syndrome (Ataxia and Deafness, Reardon Type; A taxia- D eafness- R etardation [ ADR ] Syndrome) Ataxia deafness reardon type ATAXIA-DEAFNESS-RETARDATION SYNDROME Also see Red Hair Color Red Hair Color (Hair Color 2) HAIR COLOR 2; HCL2

60. Robinowin Oireyhtymä - Kehitysvammahuollon Tietopankki robinow syndrome, MCA/MR Syndromes, Multiple Congenital Anomaly/Mental robinow syndrome, AUTOSOMAL RECESSIVE, OMIM, Victor A. McKusick et al. http://www.saunalahti.fi/kup/syndroma/robinow.htm

Kehitysvammahuollon tietopankki Raajojen luutumishäiriö ja kasvojen sekä sukuelinten poikkeavuudet Robinowin oireyhtymä Robinowin dvarfismi Robinow-Silverman-Smithin oireyhtymä Fetaalisten kasvojen oireyhtymä Oireyhtymän pääpiirteet ovat fataaliset kasvot (sikiöaikaisen näköiset), vajaamittaiset kyynervarret, kohoava otsa, etäiset silmät ( hypertelorismi ), leveät ja alaspäin vinot silmäluomiraot, ylöspäin kääntynyt leveä nenä ja sieraimet, pitkä ylähuulivako, taakse vetäytynyt leuka, lyhytsormisuus ja vajaakasvuiset sukuelimet. Älyllinen suoriutuminen on yleensä normaalia, mutta psyykkistä kehitysvammaisuutta ja kasvuviivettä esiintyy noin 18 %:lla. Pää on yleensä suuri ( makrokefalia ), korvalehdet poikkeavan näköiset ja ylähuuli V:n muotoinen tai telttamainen. Huuli- ja kitalaenhalkio, suulaen lyhyys, hampaiden virheasentoisuus, ikenien vetäytyminen, kitakielekkeen epämuodostuminen ja kielen jäykkyys saattavat niinikään kuulua oireisiin, samoin kylkiluiden epämuodostumat, kuopparintaisuus ja nivuksien tai napanuoran tyrä. Pienikokoisten käsien viidennet sormet ovat usein vinot. Sekä sormet että varpaat ovat lyhyet. Myös jalat ovat pienikokoiset.

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