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
Extractions: 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.
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
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
Extractions: 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 (
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
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
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
Extractions: 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
Extractions: 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 // 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.
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
Extractions: 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 Other Research Articles Download free Adobe Acrobat reader How can I learn more about VWS? Craniofacial Research Center
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
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
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
Extractions: 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)
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
Extractions: 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 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.
Extractions: 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
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
Extractions: Community Education and Events Director, Neuromuscular Services Assistant Professor, Clinical Affiliated of Pediatric Orthopaedics, University of Cincinnati Medical Center twee.do@cchmc.org 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.
Extractions: 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
