61. Skin Dimples RussellSilver syndrome popliteal pterygium syndrome. SACRAL DIMPLES, Spina bifidaBloom syndrome Carpenter syndrome FG syndrome Robinow syndrome http://www.thedoctorsdoctor.com/diseases/skin_dimples.htm

Background Dimples may be a cute trait of your significant other but it sometimes may be a clue to an underlying or associated disease or syndrome. Outline Disease Associations Laboratory/Radiologic/Other Diagnostic Testing Commonly Used Terms DISEASE ASSOCIATIONS CHARACTERIZATION DIMPLES ASSOCIATED WITH ABERRANT POSITIONING DURING FETAL LIFE Arthrogryposis Metaphyseal chondrodysplasia Camptomelic dysplasia Kyphomelic dysplasia Mesomelic dysplasia Hypophosphatasia FACIAL DIMPLES-CHEEKS Familia FACIAL DIMPLES-CHIN Whistling face syndrome Simosa craniofacial syndrome Weaver syndrome SHOULDER DIMPLES Autosomal dominant dimples 18q deletion syndrome Trisomy 9p Russell-Silver syndrome Popliteal pterygium syndrome SACRAL DIMPLES Spina bifida Bloom syndrome Carpenter syndrome FG syndrome Robinow syndrome Smith-Lemli-Opitz syndrome Dubowitz syndrome Zellweger syndrome X-linked dysmorphic syndrome with mental retardation OTHER Maternal rubella syndrome Joubert's syndrome Caudal dysplasia sequence LABORATORY/RADIOLOGIC/ OTHER TESTS CHARACTERIZATION RADIOLOGIC Indications for imaging cutaneous dimples in the posterior lumbosacral region: Deep dimples Dimples associated with hypertrichosis, hemangiomas, capillary malformations, lipomas, or asymmetric gluteal crease

62. Blackwell Synergy Pediatr Dermatol, Vol 19, Issue 4, Pp. 363-364 Saal HM, Chitty L. popliteal pterygium syndrome a clinical study of three Wong FK, Gustafsson B. popliteal pterygium syndrome in a Swedish family http://www.blackwell-synergy.com/doi/abs/10.1046/j.1525-1470.2002.00099.x

63. Congenital Fusion Of Maxilla And Mandible (Bony Syngnathia): A Case Report Syngnathia could also occur with popliteal pterygium syndrome and van der Woudesyndrome. This report presents a case of syngnathia with bilateral http://www.ams.ac.ir/AIM/0033/yazdi0033.html

Congenital Fusion of Maxilla and Mandible (Bony Syngnathia): A Case Report Ismail Yazdi DMD, FICD , Amir Hossein Fakhraee DMD Department of Oral and Maxillofacial Surgery, Pars Hospital, Tehran, Iran Abstract Congenital bony fusion of the jaws (syngnathia) without any other anatomic oral anomalies is a very rare condition. Numerous cases with combination of cleft palate, aglossia, and soft or bony adhesion between the maxilla and mandible have been reported. Syngnathia could also occur with popliteal pterygium syndrome and van der Woude syndrome. This report presents a case of syngnathia with bilateral maxillo-mandibular inter-alveolar adhesion, unusually with no other intra-oral anomalies. Keywords Congenital bony syngnathia congenital fusion maxilla mandible syngnathia Introduction C ongenital bony fusion of the maxilla and mandible (bony syngnathia), especially as an isolated occurrence, is a very rare condition. Syngnathia mostly appears in association with other anatomic oral and maxillofacial anomalies. About 15 such cases have been reported in the literature in combination with cleft lip, cleft of hard and soft palate, aglossia, popliteal pterygium syndrome , van der Woude syndrome, aglossia-adactylia syndrome , oral soft tissue synechiae, hypoplasia of the proximal mandible, hemifacial microsomia, cleft of mandible, bifid tongue, small or absent tongue, temporomandibular (zygomaticomandibular) fusion and some other regional and systemic anomalies.

64. Gene Expression In Tooth: References Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a similar http://bite-it.helsinki.fi/REF297.HTM

Authors: Kondo,S., Schutte,B.C., Richardson,R.J., Bjork,B.C., Knight,A.S., Watanabe,Y., Howard,E., de Lima,R.L.L.F., Daack-Hirsch,S., Sander,A., McDonald-McGinn,D.M., Zackai,E.H., Lammer,E.J., Aylsworth,A.S., Ardinger,H.H., Lidral,A.C., Pober,B.R., Moreno,L., Arcos-Burgos,M., Valencia,C., Houdayer,C., Bahuau,M., Moretti-Ferreira,D., Richieri-Costa,A., Dixon,M.J., and, Murray,J.C. Title: Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Source: Nature Genetics Abstract: Last edited 10.12.2004 by P.N.

65. Gene Expression In Tooth, Note with van der Woude or popliteal pterygium syndromes (Kondo et al, 2002). of popliteal pterygium syndrome through a dominantnegative mechanism. http://bite-it.helsinki.fi/LN11.HTM

Oral clefts and van der Woude syndrome Hypodontia is a very common dental anomaly in patients with oral and facial clefts. The prevalence of hypodontia increases with cleft severity, and varies between populations. Prevalence of hypodontia ranges from 10% to 68% in different cleft types in Finland, being 10% in cleft lip, 33% in cleft palate, 49% in unilateral, and 68% in bilateral cleft lip and palate groups, and even higher in twins with clefts ( Ranta Laatikainen et al , 1994). The upper lateral incisor is the most frequently affected tooth in the cleft area both in primary and permanent dentitions. Hypodontia is more common than in the normal population also outside the cleft region, where the upper and lower second premolars are most frequently missing. A higher incidence of hypodontia in the maxilla has been reported, and has been suggested to be a result of the same factors as for the cleft ( Ranta et al , 1988). If the permanent lateral incisor is present on the cleft side it usually shows abnormalities in size and shape. In addition, the dimensions of other teeth are smaller, and timing of tooth formation and eruption in cleft children is delayed ( Ranta In Pierre Robin sequence with cleft palate, micrognathia, and glossoptosis, a 50% prevalence of hypodontia, excluding the third molars, has been reported. Hypodontia in the mandible is more frequent in Pierre Robin patients than in that of the cleft patients (

66. Entrez PubMed popliteal pterygium syndrome in a Swedish familyclinical findings and genetic Although popliteal pterygium was not found, the above clinical features http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

67. Entrez PubMed popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a similarorofacial phenotype that also includes skin and genital anomalies. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

68. A Listing Of Disorders popliteal pterygium syndrome. Porphyria. Porphyria Cutanea Tarda. Porphyria,Acute Intermittent. Porphyria, ALAD. Porphyria, Congenital Erythropoietic http://medschool.umaryland.edu/BTBank/Family/Disorders_P.htm

Brain and Tissue Bank University of Maryland, Baltimore P Pachydermoperiostosis Paget's Disease Paget's Disease of the Breast Pallister Hall Syndrome Pallister Killian Mosaic Syndrome Pallister W Syndrome Papillitis Papillon Lefevre Syndrome Paracoccidioidomycosis Paramyotonia Congenita Paraplegia, Hereditary Spastic Parkinson's Disease Parkinson's Disease, Idiopathic Parry Romberg Syndrome Pars Planitis Parsonage Turner Syndrome Patulous Eustachian Tube Peeling Skin Syndrome Pelizaeus Merzbacher Brain Sclerosis Pemphigoid, Benign Mucosal Pemphigus Penta X Syndrome Pentalogy of Cantrell PEPCK Deficiency, Mitochondrial Perisylvian Syndrome, Congenital Bilateral Perniosis Peroxisomal Disorder Peutz Jeghers Syndrome Peyronie Disease Pfeiffer Syndrome Type I Phenylketonuria Pheochromocytoma Phocomelia Syndrome Phosphoglycerate Kinase Deficiency Pick's Disease Pierre Robin Syndrome Pinta Pityriasis Rubra Pilaris Pneumonia, Eosinophilic Pneumonia, Interstitial POEMS Syndrome Poland Syndrome Polyarteritis Nodosa Polychondritis Polycystic Kidney Diseases Polycystic Liver Disease Polycythemia Vera Polyglucosan Body Disease, Adult

69. Genetic Conditions List popliteal pterygium syndrome PraderWilli syndrome Primary Immune DeficiencyProgressive Myoclonic Epilepsy. Progressive Supranuclear Palsy http://www.agsa-geneticsupport.org.au/conditions_list.html

A-Z LIST OF CONDITIONS REPRESENTED BY AGSA A B C D ... P Q R S T U ... X Y Z -A- Aarskog syndrome Achondroplasia Acid Maltase Deficiency Acoustic Neuroma Acrocallosal syndrome Adams Oliver syndrome Adrenoleukodystrophy Aicardi syndrome Alagille syndrome Albinism Alkaptonuria Alpha l Antitrypsin Deficiency Alpha Manniosidosis Alpha Thalassaemia X-Linked Mental Retardation Alport syndrome Alstroms syndrome Amyotrophic Lateral Sclerosis Androgen Insensitivity Angelman syndrome Aniridia Anticardiolipin AB Type Antiphospholipid syndrome Ankylosing Spondylitis Apert syndrome Aspergers syndrome Ataxia -hereditary [back to top] -B- Baller-Gerold syndrome Bannayan-Riley-Ruvalcaba syndrome Baret-Biedl syndrome Bartter syndrome Batten Disease Beckwith-Wiedemann syndrome Behr syndrome Berardinelli syndrome Bilateral Iris Coloboma Bloom syndrome Blount's Disease Borjeson-Forssman-Lehmann syndrome BPES Brown syndrome [back to top] -C

70. Human Protein: O14896 - Interferon Regulatory Factor 6 (IRF-6). EMBL Bioinformat Van der Woude and popliteal pterygium syndrome are allelic disorders. DISEASE,Defects in IRF6 are the cause of popliteal pterygium syndrome (PPS) http://harvester.embl.de/harvester/O148/O14896.htm

Human protein: O14896 - Interferon regulatory factor 6 (IRF-6). EMBL FORUM Length: 467 aa , molecular weight: 53130 Da , CRC64 checksum: MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ EEENTIFKAW 60 AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT KEVPMNPVKI YQVCDIPQPQ 120 GSIINPGSTG SAPWDEKDND VDEEDEEDEL DQSQHHVPIQ DTFPFLNING SPMAPASVGN 180 CSVGNCSPEA VWPKTEPLEM EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT 240 MTVSNPQGCR LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR 300 GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET FLSDLIAHQK 360 GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR MIYEMFSGDF TRSFDSGSVR 420 LQISTPDIKD NIVAQLKQLY RILQTQESWQ PMQPTPSMQL PPALPPQ 467 // SOURCE BLAST OMIM SMART ... GoTo: SOURCE @ Stanford University Interferon regulatory factor 6 UniGene LocusLink OMIM GenAtlas ... Genome Browser Chromosomal Location Chromosome/Cytoband LocusLink Information Locus Link Summary This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. This protein is involved in palate formation. SwissProt Information SwissProt Accession No.

71. Smith’s Recognizable Patterns Of Human Malformation, 6th Edition Grebe Syndrome Poland Sequence UlnarMammary Syndrome popliteal pterygium syndromeEscobar Syndrome Child Syndrome Femoral Hypoplasia-Unusual Facies http://www.intl.elsevierhealth.com/catalogue/title.cfm?ISBN=0721606156

72. Craniofacial Center Collaboratory (Center News) Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes (Notethis is a large file). Learn more about Van der Woude Syndrome http://craniofacialcenter.uiowa.edu/center/news.php

Center News News At The Craniofacial Center Collaboratory Research related to craniofacial anomalies is ongoing and everchanging. The links below serve to keep people informed about the latest research along with other news related to the Craniofacial Center Collaboratory. Recent News Related to Van der Woude Syndrome UI Team Closes in on Cleft Lip Gene Mutated gene identified Key gene in cleft lip traced MEDLINEplus-Cleft and Lip Palate News ... Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes (Note: this is a large file) Learn more about Van der Woude Syndrome Other Research Articles Gene/environment causes of cleft lip and/or palate Download free Adobe Acrobat reader How can I learn more about VWS? Craniofacial Research Center University of Iowa 140 Eckstein Medical Research Building Iowa City, IA 52242-1101 Toll Free: 866-520-8982 http://craniofacialcenter.uiowa.edu Regional Genetic Consultation Service Division of Medical Genetics 200 Hawkins Drive Iowa City, IA 52242-1083

73. CCDD: Physician: References: Links: Syndromes of Iowa Craniofacial Center Collaboratory, The gene for VWS (Van der WouldSyndrome) and popliteal pterygium syndrome has recently been identified. http://www.hopkinsmedicine.org/craniofacial/References/LinkList.cfm?Category=Phy

74. Directory Of Open Access Journals Title, popliteal pterygium syndrome with unusual features Abstract,popliteal pterygium syndrome is a well defined complex that consists of popliteal http://www.doaj.org/abstract?id=84407&toc=y

75. MUMS List Of Disorders - P Pontocerebellar Hypoplasia (4); Pontocerebellar Hypoplasia Type II (3);Pontospinocerebellar Degeneration (1); popliteal pterygium syndrome (3) http://www.netnet.net/mums/mum_p.htm

Return to MUMS Home Page MUMS: List of Disorders P Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. PANDAS (Ped. Autoimmune Neuropsychiatric Disorders Assoc w/Strep) (1) PEHO Progressive Encephalopathy Edema Hypsarrhythmia Ocular (5) PNET Primary Neuroectodermal Tumor of the Spine (Cancerous) (2) * Pacemaker (heart/cardiac) (23) Pachydermoperiostosis (1) Pachygyria (19) Pachyonychia Congenital (1)* Palate, High (22) Pallister-Hall Syndrome (3) * Pallister-Killian Syndrome (17) ** Pancreatic, Chronic Familial (1) Pancreatitis (7) Panhypogammaglobulinemia (1) Panhypopituitarism (20) Panic-Anxiety Syndrome (1) Panniculitis (inflamed fatty connective tissue in wall of abdomen) (1) Paralyzed Diaphram (4) Paralyzed Palate using palatal obturatur (1) Paramyotonia Congenita (temorary paralysis) (1)* Paranoid Schizophrenia (2) Paraplegia (10) Paris-Trousseau Syndrome 1) Parkes-Weber Syndrome (form of Klippel-Trenaunay) (1) ** Parkinson's (2) Parkinson's, Infantile (1)

76. Comunicación Nº 047 BIBLIOGRAFÍA Bartsocas CS; Papas CV popliteal pterygium syndrome Evidence for a severeautosomal recessive form. J Med Genet 92226,1972. Escobar V; Bixler D; http://www.conganat.org/iicongreso/comunic/047/biblio.htm

Comunicación Nº 047 Indice SINDROME DE PTERIGION POPLITEO, TIPO LETAL. A proposito de un caso. Dr. Agustin Chong Lopez, Dr. Gershom C. Ejeckham, FRCPath, FRCP(c), Dr. Abdulrazzaq Haider TITULO INTRODUCCIÓN CASO CLÍNICO RESULTADOS ... BIBLIOGRAFÍA BIBLIOGRAFÍA Bartsocas CS; Papas CV: Popliteal pterygium syndrome: Evidence for a severe autosomal recessive form. J Med Genet 9:222-6,1972. Escobar V; Bixler D; Gleiser S; Weaaver DD; Gibss T: Multiple pterygium syndrome. Am J Dis Child 132:609-11,1978. Martínez-Frías ML; Frías JL; Fernández J: Bartsocas-Papas syndrome: Three familial cases from Spain. Am J Med Genet,39:34-7,1991. Giannotti A; Digilio MSC; Standoli L; Zama M; Dallapiccola B: New case of Bartsocas-Papas syndrome surviving at 20 months. Am J Med Genet 42:733-5,1992. Fitch N; Rochon L; Srolovitz H; Hamilton E: Vascular abnormalities in a fetus with Multiple Pterygia. Am J Med Genet 21:755-760,1985. Teebi AS; Daoud AS: Multiple pterygium syndrome: a relaatively common disorder among Arabs. Letter to the editor. J Med Genet, 27:791-2,1990. Papadia F; Nicola L: Nosological difference between the Bartsocas-Papas Syndrome and Lethal Multiple Pterygium Syndrome. Am J Med Genet 29:699-70, 1988.

77. Laboratory: North East Thames Regional Molecular Genetics Laboratory popliteal pterygium syndrome (PPS). 119500 Prader Willi Syndrome 176270 Pseudodeficiency of Arylsulphatase A (PDASA) http://www.cmgs.org/new_cmgs/Laboratory Information/List of Labs/GOSH test list

Laboratory: North East Thames Regional Molecular Genetics Postal address: Contact 1: Gail Norbury Level 5, Camelia Botnar Laboratories Contact 2: Lucy Jenkins Great Ormond Street Hospital Telephone 1: London WC1N 3JH Telephone 2: UK Fax: Email 1: NorbuG@gosh.nhs.uk Email 2: Lucy.Jenkins@gosh.nhs.uk Website Service Pack Disease Service: OMIM reference number: Achondroplasia Adenosine Deaminase deficiency (ADA) Albright's Hereditary Osteodystrophy Angelman syndrome Apert syndrome Autoimmune Lymphoproliferative syndrome (FAS) Branchio-oto-renal syndrome Carbamoylphosphate synthetase I deficiency Congenital Central Hypoventilation syndrome (PHOX2B) (in development) Connexin 26 (GJB2) Connexin 30 (GJB6) 342kb deletion Crouzon syndrome Cystic Fibrosis Cystinosis Fabry disease ... Familial Breast and Ovarian Cancer (common Ashkenazi Jewish mutations only) Familial Hemophagocytic Lymphohistiocytosis (PRF1) Fragile X A Fragile X E Gaucher disease ... Medium Chain deficiency of Acyl-CoA Dehydrogenase (MCAD) Metachromatic Leucodystrophy (ARSA) Mitochondrial A1555G mutation (12S rRNA) Muenke syndrome Myotonic Dystrophy (DM1) Ornithine Transcarbamylase deficiency ... Pfeiffer syndrome Popliteal Pterygium Syndrome (PPS) Prader Willi Syndrome Pseudodeficiency of Arylsulphatase A (PDASA) Pseudohypoparathyroidism (PHP1a) Pseudo-pseudohypoparathyroidism (PPHP) ... Saethre-Chotzen syndrome Sanfilippo syndrome (MPSIII) (in development) Thanatophoric Dysplasia Usher type 1C / homozygous 11p15-p14 deletion syndrome

78. Twee Thi Do, MD, Cincinnati Children's Hospital Medical Center Parikh SN, Crawford AH, Do TT, Roy DR popliteal pterygium syndrome Donnelly LF, Emery KH, Do TT MR imaging of popliteal pterygium syndrome in http://www.cincinnatichildrens.org/svc/find-professional/d/twee-thi-do.htm

Home Contact Us Site Map Go to Advanced Search ... Community Education and Events Find a Health Care Professional / Researcher Twee Thi Do, MD, FAAP Title Director, Neuromuscular Services Appointment Assistant Professor, Clinical Affiliated of Pediatric Orthopaedics, University of Cincinnati Medical Center Email twee.do@cchmc.org Phone Fax Bio Twee Thi Do, MD, completed a four-year residency in Orthopaedics at the University of Colorado Health Sciences Center in Denver, Colo., in 1998, after completing a one-year internship in general surgery. Dr. Do also completed a one-year fellowship in Pediatric Orthopaedics at the Hospital for Special Surgery in New York. She received a graduate degree in medicine in May 1993. Dr. Do's special interests include spinal deformities and Women's sports medicine. Twee Thi Do, MD, possesses a significant amount of experience in the treatment of pediatric orthopaedic problems, including: pediatric trauma, spina deformities, cerebral palsy and adolescent sports medicine. During residency, she spent the greater part of a year at Denver Health Medical Center (DHMC), one of the busiest trauma centers in the country. At DHMC, she evaluated and treated patients of varying ages with problems from simple fractures to mangled extremities needing amputations. The emphasis on pediatric orthopaedics included six months at the Denver Children's Hospital, where Dr. Do was also able to interact with the Shriner's Hospital for Crippled Children in Salt Lake City. These experiences were followed by a year spent at the Hospital for Special Surgery where she focused mainly on spinal deformities and cerebral palsy.

79. Faculty Of 1000 Biology | Mutations In IRF6 Cause Van Der Woude And Popliteal Pt Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Kondo S,Schutte BC, , Dixon MJ, Murray JC Nat Genet 2002 Oct 32(2)2859 http://www.facultyof1000.com/article/12219090/evaluation

Subscription Info Institutional Access Free Trial F1000 walkthrough ... About F1000 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Kondo S, Schutte BC, ..., Dixon MJ, Murray JC Nat Genet 2002 Oct "The gene causing Van der Woude syndrome, a hereditary form..." Evaluated by Faculty of 1000 Biology member Sue Malcolm (University College London, United Kingdom) To see the full evaluation, choose from the options below: Faculty of 1000 Biology Essential, rapid post-publication evaluation of the most important papers in biology by over 1900 of the world's top scientists [see a sample evaluation You can: Customize the site and receive tailored e-mail alerts [ more "This is really going to help busy scientists find the gems amongst the mounds of rubble!" Keith Roberts (John Innes Centre, UK) Personal access Existing subscribers Log in here E-mail Password Free 7 day trial Subscribe Institutional access Recommend to your librarian 80% of the world's top institutions subscribe! Log in via Athens If you are registered and have trouble logging in, email us:

80. "K" Index Of First Author's Last Name - HGJC Past Presentations Cell 109145148. Kondo S et. al. Mutations in IRF6 cause Van der Woude andpopliteal pterygium syndromes. Nat Genet 2002 Oct;32285-9. http://hgjc.stanford.edu/A-ZPastArticles/KReferences.html

A-Z Articles Index by First Author's Last Name A B C D ... Z Kalkhoven E et al. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet 2003;12(4):441-450. Kalkhoven E et al. The PHD type zinc finger is an integral part of the CBP acetyltransferase domain. Mol Cell Biol 2002;22(7):1961-1970. Kansas HB 2380, The Child Rape Protection Act (enacted, April 14, 2005) Kasahara M. et al. Chromosomal duplication and the emergence of the adaptive immune system. Trends Genet. 1997;13:90-92. Kiepiela P et al. Dominant influence of HLA-B in mediating the potential co-evolution of HIV and HLA. Nature. 2004 Dec 9;432(7018):769-75. Kikkawa Y et al. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet 2003;12(5):453-461. Kim RB et al. Identification of functionally variant MDR1 alleles among European Americans and African Americans. Clin Pharmacol Ther. 2001 Aug;70(2):189-99. Kiss T., (2002) Small nucleolar RNAs: an abundant group of noncoding RNAs with diverse cellular functions. Cell 109:145-148

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