1. Pallister-Hall Syndrome pallisterhall syndrome, its synonyms, a summary and a list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome521.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Pallister-Hall syndrome Synonyms Hall syndrome 2 congenital hypothalamic hamartoblastoma hamartopolydactyly syndrome hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma-hyperphalangeal hypoendocrine-hypoplastic anus (4H) syndrome hypothalamic hamartoblastoma-hypopituitarism-imperforate anus-postaxial polydactyly syndrome microphallus-imperforate anus-syndactyly-hamartoblastoma-abnormal lung lobulation-polydactyly (MISHAP) syndrome renal-anal-lung-polydactyly-hamartoblastoma (RALPH) syndrome Summary A syndrome of hypothalamic hamartoblastoma, craniofacial abnormalities, polydactyly, and endocrine, cardiac, renal defects, and mild mental retardation in some cases. Major Features Head and neck: Short midface and micrognathia. The skull may be asymmetric with large fontanels. Ears: Low set and posteriorly angulated ears. Nose: Flat nose with a flat bridge and anteverted nostrils. Mouth and oral structures: Microglossia, buccal frenula, palatal anomalies, and cleft larynx. Gingival cysts and hypoplastic mandibular ridge may be associated.

2. Pallister-Hall Syndrome pallisterhall syndrome, its synonyms, a summary and a list of major features. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Pallister-Hall Syndrome A Layman's Guide From here you can explore the PallisterHall Foundation (Aust.) Website which is an essential resource and reference for pallister-hall syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. GeneReviews: Pallister-Hall Syndrome Your browser does not support HTML frames so you must view pallisterhall syndromein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/phs/

Your browser does not support HTML frames so you must view Pallister-Hall Syndrome in a slightly less readable form. Please follow this link to do so.

5. Dictionaries For Pallister-Hall Syndrome [PHS] Patients/Terms Explanation of pallisterhall syndrome PHS related terminolgy. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Clinical Trial: Phenotype And Etiology Of Pallister-Hall Syndrome Biesecker LG, Graham JM Jr. pallisterhall syndrome. J Med Genet. 1996 Jul;33(7)585-9.No abstract available. Study ID Numbers 940193; 94-HG-0193 http://www.clinicaltrials.gov/ct/gui/show/NCT00001404

Home Search Browse Resources ... About Phenotype and Etiology of Pallister-Hall Syndrome This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) August 12, 2005 Sponsored by: National Human Genome Research Institute (NHGRI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins. Condition Epilepsy Hamartoma Multiple Abnormalies Syndactyly MedlinePlus related topics: Birth Defects Bone Diseases Cancer Cancer Alternative Therapies ... Epilepsy Study Type: Observational

7. Pallister Hall Syndrome pallisterhall syndrome (PHS) is an extremely rare genetic disorder that may be apparent at birth (congenital). The symptoms and findings associated http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Pallister-Hall Syndrome on genetic conditions or birth defects variety of resources; The NationalOrganization for Rare Disorders Pallister Hall Syndrome information http://www.kumc.edu/gec/support/palshall.html

Pallister-Hall syndrome Pallister-Hall Foundation RFD Box 3000, Fairground Rd Bradford, VT 05033 Phone: (802) 222-9683 Contact: Debra Messer Also See: National organizations with information on genetic conditions or birth defects - variety of resources The National Organization for Rare Disorders Pallister Hall Syndrome information To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

9. PALLISTER HALL SYNDROME Contact A Family - For Families With printer friendly PALLISTER HALL SYNDROME search this site home how we can help medical information index of conditions http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Pallister-Hall Syndrome Information Diseases Database pallisterhall syndrome,RALPH syndrome, Disease Database Information. http://www.diseasesdatabase.com/ddb32013.htm

Diseases Database Index Sponsors Contact ... Previous Page Pallister-Hall syndrome information Search 2 synonyms or equivalents were found. Pallister-Hall syndrome aka/or RALPH syndrome may cause or feature (Follow link for list.) may be allelic with (Follow link for list.) belong(s) to the category of (Follow link for list.) Pallister-Hall syndrome: Definition(s) via UMLS Code translations and terms via UMLS Pallister-Hall syndrome: specific web sites Send Pallister-Hall syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 14:36:53 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

11. Pallister-Hall Syndrome Phenotype In Mice Mutant For Gli3 B Se Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Pallister-Hall Syndrome Phenotype In Mice Mutant For Gli3 B Se pallisterhall syndrome phenotype in mice mutant for Gli3 Jens B se , Lars Grotewold and Ulrich R ther* http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Pallister-Hall Syndrome pallisterhall syndrome Hypothalamic Hamartoblastoma Syndrome Author Leslie G Biesecker, MD About the Author http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. Pallister-Hall Syndrome pallisterhall syndrome. Pallister-Hall Foundation RFD Box 3000, Fairground Rd Bradford, VT 05033 Phone (802) 222-9683 Contact Debra http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Pallister-Hall Syndrome: Clinical And MR Features -- Kuo Et Al. 20 (10): 1839 -- When the diagnosis of pallisterhall syndrome was made, We report the imagingfindings in a case of pallister-hall syndrome that has been followed http://www.ajnr.org/cgi/content/full/20/10/1839

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Figures Only Full Text (PDF) ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Kuo, J. S. Articles by Truwit, C. L. American Journal of Neuroradiology American Society of Neuroradiology ARTICLE Pallister-Hall Syndrome: Clinical and MR Features Jeffrey S. Kuo ,a Sean O. Casey a Linda Thompson a and Charles L. Truwit a a From the Department of Neuroradiology (J.S.K., S.O.C., L.T., C.L.T.), University of Minnesota, Minneapolis, Minnesota. Abstract TOP Abstract Introduction Case Report Discussion References Summary: A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of Pallister-Hall syndrome was made, conservative management was elected. When the patient was 2 years old, the

16. Pallister-Hall Syndrome Clinical And MR Features Kuo Et Al. 20 pallisterhall syndrome Clinical and MR Features Jeffrey S. Kuo a , Sean O. Caseya , Linda Thompsona and Charles L. Truwita http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Pallister-Hall Syndrome: Clinical And MR Features -- Kuo Et Al. 20 (10): 1839 -- pallisterhall syndrome Clinical and MR Features. Jeffrey S. Kuo ,a , Sean O.Caseya , Linda Thompsona and Charles L. Truwita http://www.ajnr.org/cgi/content/figsonly/20/10/1839

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text Full Text (PDF) ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Kuo, J. S. Articles by Truwit, C. L. Pallister-Hall Syndrome: Clinical and MR Features Jeffrey S. Kuo ,a Sean O. Casey a Linda Thompson a and Charles L. Truwit a a From the Department of Neuroradiology (J.S.K., S.O.C., L.T., C.L.T.), University of Minnesota, Minneapolis, Minnesota. View larger version [in a new window] FIG 1. Single image from laryngoscopy demonstrates large midline cleft ( black arrow ) through the epiglottis ( white arrows FIG View larger version [in a new window] FIG 3. Sagittal T1-weighted (580/14/2 [TR/TE/excitations]) MR image demonstrates large sellar and suprasellar mass extending over and through dorsum sella and into pontine cistern. The infundibulum is anteriorly displaced and pituitary ( arrow ) is compressed. Posterior displacement of pons and midbrain with superior displacement of third ventricle is visible.

18. Pallister Hall Syndrome pallisterhall syndrome (PHS) is an extremely rare genetic disorder that may beapparent at birth (congenital). The symptoms and findings associated with http://www.bchealthguide.org/kbase/nord/nord1016.htm

var hwPrint=1;var hwDocHWID="nord1016";var hwDocTitle="Pallister Hall Syndrome";var hwRank="1";var hwSectionHWID="nord1016-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Pallister Hall Syndrome Important It is possible that the main title of the report Pallister Hall Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Hall-Pallister Syndrome PHS Congenital hypothalamic hamartoblastoma syndrome CAVE (cerebro-acro-visceral early lethality) complex Disorder Subdivisions None General Discussion Resources American Brain Tumor Association 2720 River Road Suite 146 Des Plaines, IL 60018 USA Tel: 8478279910 Fax: 8478279918 Tel: 8008862282 Email: info@abta.org Internet: http://www.abta.org Hydrocephalus Association 870 Market Street Suite 705 San Francisco, CA 94102 USA Tel: 4157327040 Fax: 4157327044 Tel: 8885983789 Email: info@hydroassoc.org Internet: http://www.hydroassoc.org

19. UCSF - Neuroradiology Case Of The Month pallisterhall syndrome. SUMMARY. 1980 — Hall et al described syndrome consisting of Hypothalamic hamartoma and the pallister-hall syndrome. http://www.neurorad.ucsf.edu/previouscases/03062000.html

December 1999 Interesting Case Case History: Images: Click on image to view full size image. Diagnosis: Agressive fibromatosis of the right neck. Sagittal T1, axial FSE T2, axial T1, and T1 axial and coronal fat saturation post gadolinium sequences demonstrate an infiltrative mass posterior to the sternocleidomastoid muscle in the right neck. The mass is isointense to skeletal muscle on T1 pre-gad images, is intermediate on FSE T2 images and demonstrates marked contrast enhancement. PALLISTER-HALL SYNDROME SUMMARY 1980 — Hall et al described syndrome consisting of hypothalamic "hamartoblastoma", hypopituitarism, imperforate anus, polydactyly, and various visceral anomalies ETIOLOGY CLINICAL Primary feature is the hypothalamic hamartoma Other major manifestations: Polydactyly Dysplastic nails Craniofacial anomalies - bifid epiglottis, cleft palate, cleft uvula, cleft larynx Imperforate anus Congenital heart defects PATHOLOGY Initial histologic exam in neonates showed primitive germ cells indicating a neoplastic potential - hypothalamic "hamartoblastoma" RADIOLOGY Isointense to gray matter on T1 Iso- to hyperintense on T2 Noncalcified, nonenhancing

20. Hall-Pallister Syndrome (www.whonamedit.com) malformation with hamartoma in the hypothalamus tract, hypopituitarism,imperforate anus and postaxial polydactyly. Also known as pallisterhall syndrome. http://www.whonamedit.com/synd.cfm/506.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. 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. A recommendation: Hypography is an open community about science and all things related Hall-Pallister syndrome Also known as: Pallister-Hall syndrome Synonyms: Congenital hypothalamic hamartoblastoma, hamartopolydactyly syndrome, hypothalamic hamartoblastoma-hyperphalangeal hypoendocrine-hypoplastic anus (4H) syndrome, microphallus-imperforate anus syndactyly-hamartoblastoma-abnormal lung lobulation-polydactyly (MISHAP) syndrome, renal-anal-lung-polydactyly-hamartoblastoma (RALPH) syndrome. Associated persons: Judith G. Hall Philip David Pallister Description: Distinct malformation with hamartoma in the hypothalamus tract, hypopituitarism, imperforate anus and postaxial polydactyly. Some patients also exhibit laryngeal clefts, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short fourth metacarpals, congenital heart defect, and growth retardation. Death usually occurs within the first weeks of life. According to some writers this is a sporadic condition; according to others it is an autosomal dominant trait. Maternal insecticide and pesticide exposure were reported in some instances. The condition is extremely rare.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 1     1-20 of 93    1  | 2  | 3  | 4  | 5  | Next 20