61. Genetic Disorders Killian Mosaic Syndrome; Personal Pages; popliteal pterygium syndrome;PraderWilli Syndrome; Propionic Acidemia; Proteus Syndrome; Prune http://www.ad.com/Health/Conditions_and_Diseases/Genetic_Disorders/

search Top Categories: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. Category: Health > Conditions and Diseases > Genetic Disorders http://www.drgreene.com/html/21614.html Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. Category: Health > Conditions and Diseases > Genetic Disorders http://www.geneclinics.org/ Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. Category: Health > Conditions and Diseases > Genetic Disorders http://www.kumc.edu/gec/support/ Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy and homocystinuria and cystic fibrosis. Category: Health > Conditions and Diseases > Genetic Disorders http://www.mindspring.com/~sandysimmons/genetic_disorders.html

62. P Ovarian Syndrome; @ Polydystrophic Oligophrenia; @ Pompe Disease;@ popliteal pterygium syndrome; @ Porencephaly; @ Porphyrias. @ Portal http://www.ad.com/Health/Conditions_and_Diseases/P/

search Top Categories: PCC Deficiency @ POEMS Syndrome @ Pain @ Pallister-Hall Syndrome ... @ Pyromania AD.COM Web Directory is based on ODP - Open Directory Project data. No proprietary software was used in the development of this web site. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

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64. NORD Rare Disease - Medical Transcription At Medword Vera Polyglucosan Body Disease, Adult Polymyalgia Rheumatica Polymyositis Polyposis,Familial Pompe Disease popliteal pterygium syndrome Porphyria Porphyria http://www.medword.com/rardisP.html

For Transcriptionists - By Transcriptionists SITE MENU Books Business Courses Diversions ... Search Medword Resources NORD Rare Disease P This listing of rare diseases is provided for spelling reference. Clicking on the link will generate a new window and take you to NORD's home page, where you may search for an abstract of the disease or order a full text report of the disease. Please read the notice at the bottom of this page before using this list. A B C D ... Z Find on this page P Pachydermoperiostosis Paget's Disease Paget's Disease of the Breast Pallister Hall Syndrome ... Pyruvate Kinase Deficiency Please Click HERE for a comma-delimited list of the rare diseases that you may add to your speller. List made available by express written permission of NORD - National Organization for Rare Disorders, Inc. Print This Page Important: Please use the above list at your own risk. While we make every effort to ensure accuracy, we cannot be held responsible for errors in spelling or capitalization, or any circumstance that may result because of said error. In using the above list you also agree to never hold ANSO Consulting Inc. or Medword Medical Transcription responsible for any errors should they exist. Please Note: Medword's Lists of Medical Books Book Lists Menu Abbreviations Administration Atlases ... "Incredibly Easy" Medical Books

65. Genetic Wizard OMIM, UMF, Lissencephaly, NINDS, OMIM, popliteal pterygium syndrome, LissencephalyNetwork, OMIM, Lissencephaly Launch Pad, Family Village, Gene Clinics, http://www.geocities.com/tal_70118/geneticwizard.html

The Genetic Wizard The Genetic Wizard will morph into a link page for patients, families and professional colleagues. The Web is an exceptional source of genetic information, some of it organized into databases covering a large number of topics, others targeting single conditions. The most comprehensive Web-based genetic database is Online Mendelian Inheritance in Man (OMIM) containing over 10,000 entries. Click on OMIM. It gives you acess to an OMIM search form. Just type in the name of the condition and wait for your information. Don't forget to look at the "Clinical Synopsis" for a precis of the presenting features. OMIM contains more information than you may need, it has links to other databases in the human genome complex, but you may need help from your counselor to understand the details. Click on Gene Reviews for high quality information about a number of genetic conditions, written by experts in the field. Chromosomes Core Curriculum Contact me by e-mail Genetic Quiz Genetics On The Web IBIS Neurogenetic Page Next Page ... Shinola 49,XXXXY Cri du chat Sib Shop A parent's view Yahoo page TOM'S KIDS ... Bulletin Klinefelter syndrome 47,XXY page - 49ers

66. Skin Dimples SHOULDER DIMPLES, Autosomal dominant dimples 18q deletion syndromeTrisomy 9p RussellSilver syndrome popliteal pterygium 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

67. Untitled Bartsocas and Papas (1972) reported 4 sibs in a consanguineous Greek family witha recessive form of the popliteal pterygium syndrome(MIM 119500).The clinical http://www.faseb.org/genetics/ashg00/f671.htm

68. Study Criteria popliteal pterygium syndrome (OMIM 119500 or OMIM GENE 607199);Van der Woude syndrome (OMIM 119300 or OMIM GENE 607199); http://www.uiowa.edu/~didr/Study Criteria.htm

Searching for the Genes That Cause Cleft Lip and Palate Study Criteria - Information for Health Professionals Contact Information for this Study Return to Information for Families The Main Study - Non-syndromic Clefts: The first criteria to be in the study is that there are 2 or more blood-related people with a cleft who are willing to participate. These can be siblings, parent/child, grandparent/grandchild, uncle or aunt/nephew or niece, anything - even second cousins, great aunts, first cousins once removed, etc. If there are more than 2 affected family members, that's even better. CLEFT: There are 2 genetically distinct types of non-syndromic clefts we are studying. The first type is familial cases of cleft lip with or without cleft palate (CL/P). The second type consists of cleft palate only (CPO). Occasionally we see somebody with a cleft lip related to somebody with just a cleft palate, but we think this is probably due to coincidence. However we would like to study these families as well, to explore this question. CHILDREN: The children can be of any age. Sometimes we plan to do the blood draw when the child is undergoing surgical repair. This way the blood can be drawn through the same line as the anesthesia IV, so the child is unconscious of any pain, and no extra needle puncture is required. We always try to verify that the child assents to the blood draw if they are over age 9.

69. Publication Biomédicales De Rouen - Mars 95 Delcampe P. Retout A. Bachy B. Peron JM. Institution Service de Chirurgie MaxilloFaciale,CHU Rouen. Title popliteal pterygium syndrome. A exceptional case. http://www.chu-rouen.fr/drrc/pub/pub9503.html

English Version Publications Authors Caron F. Pestel M. Kitzis MD. Lemeland JF. Humbert G. Gutmann L. Institution Groupe de Recherche sur les Anti-Microbiens, Hopital Charles Nicolle, Rouen, France. Title Comparison of different beta-lactam-glycopeptide-gentamicin combinations for an experimental endocarditis caused by a highly beta-lactam-resistant and highly glycopeptide-resistant isolate of Enterococcus faecium. Source Journal of Infectious Diseases. 171(1):106-12, 1995 Jan. Authors Favennec L. Comby E. Ballet JJ. Brasseur P. Title Serum IgA antibody response to Cryptosporidium parvum is mainly represented by IgA1 [letter]. Source Journal of Infectious Diseases. 171(1):256, 1995 Jan. Authors Bellissant E. Thuillez C. Richer C. Pussard E. Giudicelli JF. Institution Service de Pharmacologie Clinique, Hopital de Bicetre, Le Kremlin, France. Title Noninvasive assessment of regional arteriolar and arterial dilating properties of lisinopril in healthy volunteers. Source Journal of Cardiovascular Pharmacology. 24(3):500-8, 1994 Sep.

70. Genetic Conditions List PKU) Picks Disease Pierre Robin syndrome Poland syndrome Polyostic Fibrous DysplasiaPompe disease Potter syndrome popliteal pterygium syndrome PraderWilli 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 Thalassaemia X-Linked Mental Retardation Alport syndrome Alstroms syndrome Amyotrophic Lateral Sclerosis Androgen Insensitivity Angelman syndrome Aniridia Ankylosing Spondylitis Apert syndrome Aspergers syndrome Ataxia -hereditary [back to top] -B- Baller-Gerold syndrome Bannayan-Riley-Ruvalcaba 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 Caffeys familial neurovisceral lipidosis Caffeys generalized gangliosidosis Caffeys Pseudo-Hurler syndrome

71. CHS ~ 1999-2003 Questions And Answers: Pediatric Urology: Hypospadias 19992003 Questions and Answers. Pediatric Urology Hypospadias. QuestionOur 4 month-old son was born with popliteal pterygium syndrome. http://www.coloradohealthsite.org/chnqna.html?Pediatric Urology?Hypospadias?831

72. OAss. PD Dr. Rer. Nat. Habil. V. Beensen Fachhumangenetiker 34. Translate this page SEIDEL, J., FASCO, F., SACHSE, A., BEENSEN, V., CHUDOBA, I., SITTE-ZÖLLNER, P.Diagnosis and therapy of a patient with popliteal pterygium syndrome (PPS) Med http://mti-n.mti.uni-jena.de/~huwww/ZYTO/PUBLI.HTM

Ausgewählte Publikationen der letzten Jahre OAss. PD Dr. rer. nat. habil. V. Beensen Fachhumangenetiker 34. BEENSEN, V., GROSS, W., HAUSCHILD, R., KELBOVA, CH. und EICHHORN, K.-H.: Pränataldiagnostik genetisch bedingter Erkrankungen Ärzteblatt Thüringen 1 (1995) 43 - 51 35. KELBOVA, CH., BEENSEN, V., SENGER, G., CLAUSSEN, U., SEIDEL, J.: Mit FISH genetisch bedingten Krankheiten auf der Spur Zeiss Information mit Jenaer Rundschau 5 (1996) S. 10-12. 36. RUBTSOV, N., SENGER, G., KUZCERA, H., NEUMANN, A., KELBOVA, CH., JUNKER, K., BEENSEN, V., CLAUSSEN, U.: Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting Hum. Genet. 97 (1996) S. 705-709. 37. BEENSEN, V., ERNST, G., WOLLINA, U.: Bedeutung genetischer Faktoren für die Entstehung maligner Melanome und dysplastischer Naevi Ärzteblatt Thüringen 12 (1996) S. 618 - 621 38. LIEHR, TH., STARKE, H., BEENSEN, V., KÄHLER, CH., HARBICH, M., BRUDE, E., ZIEGLER, M. and CLAUSSEN, U.: Translocation trisomy dup (21q) and free trisomy 21 can be distinguished by interphase-FISH Internat. J. Mol. Med. 3 (1999) 11 - 14 40. SEIDEL, J., VOGT, S., KIRCHNER, M., KAUF, E., BEENSEN, V. und ZINTL, F.: Zur wissenschaftlichen Auseinandersetzung mit Erkrankungen des Skelettsystems in der Universitäts-Kinderklinik Jena - Ein historischer Überblick Pädiatr. Grenzgeb. 38 (1999) 51 - 63

73. Ingenta Select popliteal pterygium syndrome in a Swedish familyclinical findings and geneticanalysis with the van der Woude syndrome locus at 1q32-q41, p85. http://www.ingentaselect.com/vl=1/cl=4/nw=1/rpsv/catchword/tandf/00016357/v58n2/

74. Katalog Health Conditions_and_Diseases Genetic_Disorders Mosaic Syndrome; PallisterHall Syndrome; Phenylketonuria (*); PolycysticKidney (*); popliteal pterygium syndrome; Porphyrias (*); Prader http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/Genetic_Disorders/

75. Open Classes's $p->page_title Svenska Open Directory Health Conditions and Diseases GeneticDisorders popliteal pterygium syndrome Previous Catagory. http://dodo101.ath.cx/expat/odp.php/Health/Conditions_and_Diseases/Genetic_Disor

Open Directory Edit Add URL Update URL Description ... Svenska Open Directory - Health: Conditions and Diseases: Genetic Disorders: Popliteal Pterygium Syndrome [ Previous Catagory See also: Health: Conditions and Diseases: Rare Disorders Health: Consumer Support Groups: Facial Differences: Cleft Lip and Palate Open Directory - Health: Conditions and Diseases: Genetic Disorders: Popliteal Pterygium Syndrome [ Previous Catagory National Library of Medicine - Includes the synonyms of multiple pterygium syndrome, a summary and the major features. NORD - Popliteal Pterygium Syndrome - Offers synonyms, a general discussion and further resources. Popliteal Pterygium Syndrome " search on: All the Web AltaVista Deja Google ... Yahoo Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

76. Birth Disorder Information Directory - P Pontocerebellar Hypoplasia Type II Support Group. popliteal pterygiumsyndrome See pterygium, syndrome, popliteal. Porencephaly List http://www.bdid.com/defectp.htm

HOME P P-4 Deletion Syndrome A nationally recognized not-for-profit pre-school and therapeutic center for children with and without developmental delays ages 18 months to five years p47-PHOX, Deficiency of See Granulomatous Disease, Chronic, Autosomal Cytochrome-b-Positive Form, Type I p67-PHOX, Deficiency of See Granulomatous Disease, Chronic, Autosomal Cytochrome-b-Positive Form, Type II Pachydermopreiostosis (Hypertrophic Osteoarthropathy, Primary or Idiopathic) PACHYDERMOPERIOSTOSIS; PDP Pachyonychia Congenita See Jadassohn Lewandowsky Syndrome Pagod Syndrome See Kennerknecht Sorgo Oberhoffer Syndrome Pagon Bird Detter Syndrome (Anemia Sideroblastic Spinocerebellar Ataxia) Anemia sideroblastic spinocerebellar ataxia ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT Pagon Syndrome See Walker Warburg Syndrome Pallister Syndrome See Schinzel Syndrome Pallister Hall Syndrome (Hypothalamic Hamartoblastoma, Hypopituitarism, Imperperforate Anus, and Postaxial Polydactyly) Pallister Hall syndrome:early diagnosis and natural history PALLISTER-HALL SYNDROME; PHS Also see McKusick Kaufman Syndrome Pallister Killian Syndrome V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2

77. HEDINGER SYNDROME PTERYGIUM POPLITEAL DEFECT; ULTRASONOGRAPHY; ULTRASONOGRAPHY ABDOMEN; ULTRASONOGRAPHY ABDOMEN KIDNEY;INPATIENT; KIDNEY FAILURE DEFECT; KIDNEY FAILURE; HEDINGER syndrome CELLAR INF http://www.med.univ-rennes1.fr/cerf/ico_an/IDRE/HADM1540.HTM

CASE indexation ABDOMEN VOLUME INCREASE; DEFICIENCIES; CELLARS; DYSPNEA; DYSPNEA DEFECT; ULTRASONOGRAPHY; ULTRASONOGRAPHY ABDOMEN; ULTRASONOGRAPHY ABDOMEN KIDNEY; INPATIENT; KIDNEY FAILURE DEFECT; KIDNEY FAILURE; HEDINGER SYNDROME CELLAR INF; HEDINGER SYNDROME CELLAR SUP; EXTUMESCENCE; EXTUMESCENCE DEFECT; EXTUMESCENCE VERY BULKY; EXTUMESCENCE BULKY AMYOTROPHY; DEFICIENCIES; DIETHYLSTILBESTROL HEDINGER SYNDROME FEMALE; INPATIENT; DISEASE PYRAMIDAL; MORPHOLOGY FEMININE; MUSCLES ATROPHY DEFECT; MUSCLES ATROPHY LOWER LIMBS; MUSCLES ATROPHY UPPER LIMB; MUSCLES ATROPHY EXTREMITIES; MUSCLES HYPOTROPHY; HEDINGER SYNDROME PYRAMIDAL; HEDINGER SYNDROME PYRAMIDAL DEFECT; HEDINGER SYNDROME PYRAMIDAL G DEFICIENCIES; STATE'DEFECT; STATE GENERAL DAMAGE PROGRESSIVE; STATE GENERAL ALTER; INFLAMMATION DEFECT; HEDINGER SYNDROME INFLAMMATORY; HEDINGER SYNDROME INFLAMMATORY DEFECT; EXTUMESCENCE; EXTUMESCENCE DEFECT; EXTUMESCENCE INFLAMMATORY DEFICIENCIES; EX. NEUROLOGICAL NORMAL; INPATIENT; INPATIENT PEDIATRICS; ICHTHYOSIS-ANOMALY EXTREMITIES; nulliparite; TESTS SHOCK toxi-INFECTIOUS; HAEMATEMESIS; ICHTHYOSIS-ANOMALY EXTREMITIES; POISONING

78. HEDINGER SYNDROME PYRAMIDAL ATROPHY LOWER LIMBS; MUSCLES ATROPHY UPPER LIMB; MUSCLES ATROPHY EXTREMITIES; MUSCLESHYPOTROPHY; HEDINGER syndrome pterygium popliteal; HEDINGER syndrome http://www.med.univ-rennes1.fr/cerf/ico_an/IDRE/HADM1553.HTM

CASE indexation AGE; DIETHYLSTILBESTROL HEDINGER SYNDROME MASCULINE; YOUNG PERSON; DISEASE PYRAMIDAL; MORPHOLOGY MALE; SENSITIVITY YOUNG PERSON; subictere; HEDINGER SYNDROME EXTRAPYRAMIDAL AMYOTROPHY; DEFICIENCIES; DIETHYLSTILBESTROL HEDINGER SYNDROME FEMALE; INPATIENT; DISEASE PYRAMIDAL; MORPHOLOGY FEMININE; MUSCLES ATROPHY DEFECT; MUSCLES ATROPHY LOWER LIMBS; MUSCLES ATROPHY UPPER LIMB; MUSCLES ATROPHY EXTREMITIES; MUSCLES HYPOTROPHY; HEDINGER SYNDROME PTERYGIUM POPLITEAL; HEDINGER SYNDROME PYRAMIDAL DEFECT; HEDINGER SYNDROME PYRAMIDAL G BABINSKI BILAT; DIETHYLSTILBESTROL HEDINGER SYNDROME FEMALE; LESION; DISEASE PYRAMIDAL; MORPHOLOGY FEMININE; DELAY WALKING; HEDINGER SYNDROME COMPRESSION MEDULLA; HEDINGER SYNDROME PYRAMIDAL PROGRESSIVE; SYNDROMES MEDULLA; DISORDER WALKING; DISORDER SENSITIVITY; DISORDER SENSITIVITY MB CALCIFICATION; CALCINOSIS TUMORAL; RHEUMATIC CERVICODYNIA; NECK PAIN; NECK PAIN POST; YOUNG PERSON; DISEASE PYRAMIDAL; SENSITIVITY YOUNG PERSON; SUFFERING DEFICIENCIES; DIETHYLSTILBESTROL HEDINGER SYNDROME MASCULINE; DUPLICITY PARTIAL; HYPOTONIA; HYPOTONIA DEFECT; DISEASE PYRAMIDAL; MORPHOLOGY MALE; PARALYSIS 2 LOWER LIMBS; PARALYSIS 2 UPPER LIMB; PARALYSIS DEFECT; PARALYSIS EXTREMITIES; PARALYSIS INCOMPLETE; PARALYSIS LOWER LIMBS; PARALYSIS LOWER LIMBS.; PARALYSIS LOWER LIMBS. PARALYSIS UPPER LIMB; PARALYSIS UPPER LIMB. PARALYSES; HEDINGER SYNDROME PYRAMIDAL DEFECT RHEUMATIC CERVICODYNIA; NECK PAIN; DISEASE PYRAMIDAL; HEDINGER SYNDROME BROWN; BROWN-SEQUARD SYNDROME HEDINGER SYNDROME BROWN; HEDINGER SYNDROME PYRAMIDAL

79. UNSW Embryology-OMIM Cleft Lip List PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, popliteal pterygium, DIGITAL AND ECTRODACTYLY,ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE syndrome 1; EEC1 http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/head/OMIM-cleftlip_list.htm

UNSW Embryology HEAD AND NECK 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-Head and Neck Notes 154 entries found, searching for "cleft lip" OROFACIAL CLEFT 1; OFC1 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION CLEFT LIP, CONGENITAL HEALED ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE

80. 99-1-5 is named as pterygium syndrome, multiple pterygium syndrome or pterygium colli syndromeis characterized with webbing in the neck, popliteal and antecubital http://www.cu.edu.tr/fakulteler/tf/tfd/99-1-5.htm

ÇUKUROVA ÜNÝVERSÝTESÝ TIP FAKÜLTESÝ DERGÝSÝ Sayfa: 24-26, Cilt: 24 , Sayý: Multipl pterigium sendromu: bir olgu sunumu Dr.Münevver TÜRKMEN , Dr.Dilara SÜLEYMANOVA Adnan Menderes Üniversitesi Týp Fakültesi Çocuk Saðlýðý ve Hastalýklarý ABD. AYDIN, Ç.Ü. Týp Fakültesi Týbbý Biyoloji ve Genetik ABD. Balcalý/ADANA ÖZET: Pterigium sendromu, multipl pterigium sendromu, pterygium colli sendromu olarak adlandýrýlan bu antite; boyunda, antekubital ve popliteal fossada yelelenme (webbing), göðüs deformiteleri, skolyoz (vertebra anomalileri), sindaktili, kamptodaktili, boy kýsalýðý, min r yüz anomalileri ve yarýk damak ile karakterizedir. Genetik geçiþi konusunda çeþitli görüþler varsa da otosomal resesif kalýtým þekli kabul görmüþtür. Burada akraba evliliði sonucu doðan, dismorfik yüz görünümü, boyunda yelelenme, dirsekler de, omuz, diz ekleminin arkasýnda, kalça ekleminin ön yüzünde deri kývrýmlarý (pterigium) ve göðüs kafesinde deformiteleri, kriptorþidizmi olan multipl pterigium sendromu tanýsý konan bir olgu genetik danýþma verilmesi nedeniyle sunulmuþtur. Anahtar kelimeler: Multipl pterigium sendromu, Otosomal resesif kalýtým

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