41. Online And Offline Support: P pallisterhall syndrome. Pallister-Hall Foundation. People served Familiesdealing with pallister-hall syndrome; Services provided Information and http://www.widesmiles.org/support/p.html

P Pallister-Hall Syndrome Pallister-Hall Foundation People served: Families dealing with Pallister-Hall Syndrome Services provided: Information and referral, networking, and printed materials Address: RFD Box, 3000 Fairground Road, Bradford VT 05033 Pallister-Killian Syndrome Pallister-Killian Family Support Group People served: Individuals and families dealing with Pallister-Killian Syndrome and related syndromes Services provided: Information and support Address: 3700 Wyndale Court, Fort Worth TX 76109 Phone number: (817) 927-8854 Parry-Romberg Syndrome/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/ Pituitary Disorders Please note: Pituitary disorders can occur with craniofacial conditions. Pituitary Tumor Network Association Network People served: Individuals and families dealing with pituitary tumors or other disorders of the pituitary gland Services: Offline: Information and referral, resource guide, news on diagnosis and treatment, and support

42. Cleft Related Genetic Syndromes pallisterhall syndrome, 146510, AD, short nose, flat nasal bridge, multiplebuccal frenula, microglossia, micrognathia, cleft palate, malformed ears http://www.widesmiles.org/cleftlinks/genetic.html

Cleft Related Genetic Syndromes/Diseases The following table was extracted from a table on Embryogenesis by Dr. Harold C. Slavkin; Director, TYPE (1) GENE NAME GENE SYMBOL CHROMOSOMAL LOCATION OMIM NUMBER FOR GENE SYNDROME OMIM NUMBER FOR SYNDROME INHERI- TANCE (2) DESCRIPTION OF CRANIOFACIAL FEATURES (3) ECM Collagen, type XI, alpha-2 chain Stickler syndrome, type II AD cleft palate, micrognathia, glossoptosis, severe myopia, flat facies, dental anomalies, deafness Osmed syndrome AR saddle nose, cleft palate, progressive deafness Shprintzen-Goldberg syndrome AD craniosynostosis, microcephaly, maxillary and mandibular hypoplasia, palatal shelf soft tissue hypertrophy, cleft palate, prominant nose, narrow palpebral fissures ECM Glypican-3 Simpson dysmorphia syndrome X disproportionately large head, coarse facies, large protruding jaw, wide nasal bridge, upturned nasal tip, large mouth, thickened lips, central cleft of lower lip, midline groove of tongue and inferior alveolar ridge, enlarged tongue, short neck ENZ Phenylalanine hydroxylase PAH Phenylketonuria AR microcephaly, occasional cleft palate, long simple philtrum, thin upper lip, flattened nasal bridge, epicanthus, upturned nose

43. Clinical Study: 94-HG-0193, Clinical And Genetic Studies Of Limb Anomaly Syndrom Linkage mapping and phenotypic analysis of autosomaldominant PallisterHallsyndrome pallister-hall syndrome. Active Accrual, Protocols Recruiting New http://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_1994-HG-0193.html

44. Clinical Dysmorphology - UserLogin We considered pallisterhall syndrome in our differential diagnosis. pallister-hall syndrome in siblings a case report and review of the literature. http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200201000-00007.htm

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45. Clinical Dysmorphology - UserLogin Overlap of PIV syndrome, VACTERL and pallisterhall syndrome clinical andmolecular analysis. Clin Genet 5828-30. Fulltext Link CrossRef Context Link http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200307000-00002.htm

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46. Johns Hopkins Bloomberg School Of Public Health Faculty - LESLIE BIESECKER, Heal include pallisterhall syndrome; Greig cephalopolysyndactyly syndrome; hormone improves final height in a patient with pallister-hall syndrome. http://faculty.jhsph.edu/?F=Leslie&L=Biesecker

47. NHGRI/DIR: Laboratory Of Genetic Disease Research 146510 pallisterhall syndrome; PHS(1987) suggested that the pallister-hall syndrome and severe (1994) reporteda definite sib recurrence of pallister-hall syndrome in a family without a http://research.nhgri.nih.gov/phs/

Home About NHGRI Newsroom Staff ... Online Research Resources Pallister-Hall Syndrome Pallister-Hall Syndrome In order to facilitate medical care of persons affected by Pallister-Hall syndrome (PHS), the National Human Genome Research Insitute is supporting a series of Web pages for professionals and families caring for or affected by PHS. The idea for these pages originated at a workshop on PHS held at the NIH in 1996. At that meeting, professionals and family representatives described the then-current knowledge about the disorder, determined clinical diagnostic criteria, made recommendations for medical evaluation of affected persons and family members, and discussed research priorities. The contents of this web page represent the opinions of the author, Leslie Biesecker , and do not necessarily represent the opinions of the NIH, the Pallister-Hall syndrome support group, or any other institution to which he is affiliated. Some of the medical data on links and are from the published workshop report and reflect the opinions of those authors, at the time of the workshop. Medical science in this area is advancing rapidly; as such, information is subject to change on a frequent basis. All individuals consulting these pages should be aware of this and other limitations to gathering medical information on the Web Pallister-Hall information sources: Bibliography of scientific and medical papers published on Pallister-Hall syndrome Diagnostic criteria that physicians should consider when evaluating a person with suspected Pallister-Hall syndrome Recommended clinical medical evaluation of persons suspected to have Pallister-Hall syndrome Pallister-Hall syndrome family support group ... Current Research on Pallister-Hall syndrome Last modified: Tuesday, 07-Jun-2005 16:05:20 EDT

48. %277170 VARADI-PAPP SYNDROME entities such as pallisterhall syndrome and the hydrolethalus syndrome. OFD VI, and pallister-hall syndrome, both of whom had congenital absence of http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:277170] -e

49. Neurosurgery - UserLogin This case might be a minor variant of pallisterhall syndrome or categorized The precedent of the pallister-hall syndrome does not clarify the matter; http://www.neurosurgery-online.com/pt/re/neurosurg/fulltext.00006123-199303000-0

LWWOnline LOGIN eALERTS REGISTER ... Articles in Press You are attempting to access protected content. To access this content please login using an established account or create/activate an account. If you have already created/ activated an online account, please login below: User Name: Password: Note: passwords are CASE SENSITIVE If you are a new user or guest visiting an LWWonline site for the first time, please complete the new account setup process to view or purchase content. Forgot your password? Subscribe Renewal Information Subscribe to RSS feed utrdc-pt01 Release 4.0

50. Pallister-Hall Syndrome And McKusick-Kaufmann Syndrome: One Entity? -- Unsinn Et The pallisterhall syndrome is characterised by specific facial anomalies,postaxial polydactyly, imperforate anus, and brain anomalies including a http://jmg.bmjjournals.com/cgi/content/abstract/32/2/125

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted 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 Unsinn, K. M. Articles by Gassner, I. Journal of Medical Genetics, 1995, Vol 32, 125-128 ARTICLES Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? KM Unsinn, N Neu, A Krejci, A Posch, G Menardi and I Gassner University Children's Hospital, Innsbruck, Austria. The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick- Kaufmann

51. Linkage Mapping And Phenotypic Analysis Of Autosomal Dominant Pallister- Hall Sy pallisterhall syndrome is a human developmental disorder that is inherited inan autosomal pallister-hall syndrome phenotype in mice mutant for Gli3 http://jmg.bmjjournals.com/cgi/content/abstract/34/6/441

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted 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 Kang, S. Articles by Biesecker, L. G. Journal of Medical Genetics, 1997, Vol 34, 441-446 ARTICLES Linkage mapping and phenotypic analysis of autosomal dominant Pallister- Hall syndrome S Kang, J Allen, JM Graham Jr, T Grebe, C Clericuzio, N Patronas, F Ondrey, E Green, A Schaffer, M Abbott and LG Biesecker National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Pallister-Hall syndrome is a human developmental disorder that is inherited in an autosomal dominant pattern. The phenotypic features of the syndrome

52. URS Mutational Spectrum of pallisterhall syndrome pallister-hall syndrome (PHS)is a pleiotropic disorder of human development that comprises hypothalamic http://www.uic.edu/orgs/urs/abstracts/2001/37.html

Why An Undergraduate Research Symposium? Past Winners 2002 Abstract Winners Boooklet (PDF) 2001 Abstract Winners ... Pictures Undergraduate Research Symposium 2001 Abstract Winners Mutational Spectrum of Pallister-Hall Syndrome Haley Naik, Christina Killoran, Isabelle Olivos-Glander, Leslie G Pallister-Hall syndrome (PHS) is a pleiotropic disorder of human development that comprises hypothalamic hamartoma, central polydactyly, and other malformations. It is inherited as an autosomal dominant trait and the proposed site for genetic mutations leading to the onset of disease has been mapped to the GLI3 gene on 7p13. In order to identify and analyze the mutations responsible for the disease, DNA samples from 52 patients were collected and mutation analysis was conducted, consisting of semiautomated (ABI 371) sequencing the 14 exons (exons 2-15) of GLI3 and using Sequencher to analyze sequence. Mutations had been found in 20 of the 52 patients, the majority of which centered on exons 13, 14 and the beginning of exon 15. Two DNA samples from the remaining 33 patients had been completely sequenced and no mutations were found in any of the 14 exons. <300bp of sequence were collected). This project yielded the completion of mutation analysis of four of the remaining 31 patients. No mutations were found on GLI3 for these patients. Thirteen of the remaining 31 patients are near completion, with 1-5 exons that require sequencing analysis to be completed. Seven of the 31 patients require significant sequencing work to be completed, and DNA for 5 patients needs to be recollected since original stocks have been depleted. In total, mutations have been found in 20 of the 52 patients, 6 of the remaining 31 patients have been completely sequenced and analyzed with no mutations on GLI3 to report. The remaining 25 patients still require additional sequencing work in order to be completed.

53. Genetic Conditions List pallisterhall syndrome Pallister-Fillian syndrome. Paroxysmal Kinesigenicchoreoathetosis Paroxysmal Nocturnal Haemoglobinuna Partington syndrome 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

54. GeneViewer Greig cephalopolysyndactyly syndrome 175700 pallisterhall syndrome 146510Polydactyly, postaxial, types A1 and B 174200 http://www.chr7.org/cgi-bin/geneview?id=GA0123

55. Link Directory - Finnish Information Center On Mental Retardation pallisterhall syndrome, GeneReviews, Leslie G Biesecker pallister-hall syndromeClinical and MR Features, American Journal of Neuroradiology http://www.saunalahti.fi/kup/engl/webs_p.html

Finnish Information Center on Mental Retardation English links A B C D ... Z Paine Syndrome Paine syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Seemanová syndrome 1, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes PAINE SYNDROME, OMIM, Victor A. McKusick Analysis of microcephaly with spastic diplegia (Paine syndrome), G2D Pallister-Hall Syndrome Pallister-Hall syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes PALLISTER-HALL SYNDROME; PHS, OMIM, Victor A. McKusick GLI-KRUPPEL FAMILY MEMBER 3; GLI3, OMIM, Victor A. McKusick, Ada Hamosh, et al. 7p13, GLI3 to 7q, ARL4, MIM Gene map ... Yahoo!Groups: Pallister-Hall Syndrome Pallister-Killian Mosaic Syndrome Pallister-Killian Syndrome Home Page Pallister Killian Mosaic Syndrome, NORD Tetrasomy 12p, Oprhanet, S. Aymé (Description détaillée de la maladie, Morichon-Delvallez) PKS, Meg Perry ... Pallister's mosaicism syndrome (www.whonamedit.com) Pallister W Syndrome Pallister syndrome 1, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes PALLISTER W SYNDROME, OMIM, Victor A. McKusick Pallister W Syndrome, WebMD A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome, Bottani A, Schinzel A, Clin Dysmorphol. 1993 - PubMed ... W syndrome: Report of three cases and review, Cyril Goizet, Dominique Bonneau, Didier Lacombe, Am. J. Med. Genet. 87:446-449, 1999. © 1999 Wiley-Liss, Inc. Partington X-linked Mental Retardation Syndrome

56. Hypothalamic Hamartoma Syndrome, Congenital CHHS shares some clinical similarities with pallisterhall syndrome, which is anautosomal dominant condition, characterized by congenital hypothalamic http://www.orpha.net/static/GB/hypothalamic_hamartoma_syndrome.html

Orphanet database access Hypothalamic hamartoma syndrome, congenital Direct access to data Summary Congenital hypothalamic hamartoma syndrome (CHHS) is a very rare condition characterized by the association of congenital hypothalamic hamartoma (benign brain tumor composed of mature neuronal and glial tissue) with various craniofacial, skeletal and visceral malformations. In most cases, death occurs before or in the first hours after birth. Hypothalamic hamartoma and skeletal dysplasia are constant features, whereas facial, cardiac, pulmonary, genitourinary and neurological abnormalities are occasional. The report of kindreds with several affected individuals suggests an autosomal recessive inheritance. The etiology of this syndrome remains unknown. CHHS shares some clinical similarities with Pallister-Hall syndrome, which is an autosomal dominant condition, characterized by congenital hypothalamic hamartoblastoma, postaxial polydactyly, imperforate anus, hypopituitarism and various visceral anomalies. *Author: Orphanet Editorial Team ( February 2005)*. Clinical signs Abnormal rib structure Autosomal recessive inheritance Benign tumors of the brain Depressed nasal bridge Short limbs/micromelia Short/small nose Skeletal anomalies Cleft lip midline Cleft palate Microglossia/aglossia Micrognatia/retrognatia Congenital cardiac anomaly Dislocated hip Dysplastic kidneys Encephalocele/exencephaly Hydrocephaly Hypoplastic lungs Hypothal.hypoph. axis abn. function

57. Leslie G. Biesecker, MD We have determined the molecular abnormality of pallisterhall syndrome, showingthat it is allelic to Greig cephalopolysyndactyly syndrome and a form of http://life.fudan.edu.cn/inforservice/dictionary/Glossary/People/biesecke.htm

58. MUMS List Of Disorders - P Pachyonychia Congenital (1)*; Palate, High (22); pallisterhall syndrome (3) *;Pallister-Killian Syndrome (17) **; Pancreatic, Chronic Familial (1) 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)

59. Elsevier.com - Smith S Recognizable Patterns Of Human Malformation SmithLemli-Opitz Syndrome Kabuki Syndrome Williams Syndrome Noonan Syndrome Meckel-Gruber Syndrome pallister-hall syndrome X-Linked Hydrocephalus http://www.elsevier.com/wps/product/cws_home/705571

Home Site map Regional Sites Advanced Product Search ... Smith's Recognizable Patterns of Human Malformation Book information Product description Audience Author information and services Ordering information Bibliographic and ordering information Book related information Submit your book proposal Other books in same subject area About Elsevier Select your view SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION To order this title, and for more information, go to http://www.elsevierhealth.com/title.cfm?ISBN=0721606156 Sixth Edition By Kenneth Jones , MD, Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, CA Description The completely revised and updated New Edition of this definitive text?now in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis * minor anomalies and their relevance * clinical approaches to specific diagnoses * and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormality?including occasional associated abnormalities?natural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.

60. UNSW Embryology-OMIM Syndactyly List 146510 pallisterhall syndrome; PHS *263650 POPLITEAL PTERYGIUM SYNDROME, LETHALTYPE *225060 ECTODERMAL DYSPLASIA, TYPE 4; ED4 http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-syndactyly_list.htm

UNSW Embryology MUSCULOSKELETAL DEVELOPMENT Embryology Home Page Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Internet access computers can see the full description of the abnormality from the links below. Back to UNSW Embryology-Musculoskeletal Notes 169 entries found, searching for " syndactyly SYNDACTYLY, TYPE III SYNDACTYLY, TYPE IV SYNDACTYLY, TYPE V CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS SYNDACTYLY, TYPE I SYNDACTYLY, TYPE II ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION CENANI SYNDACTYLISM SCLEROSTEOSIS SAETHRE-CHOTZEN SYNDROME; SCS SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY ANOPHTHALMOS WITH LIMB ANOMALIES POLAND SYNDROME SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME LONG QT SYNDROME WITH SYNDACTYLY APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV

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