Coffin-Lowry syndrome. Description of a clinical case
Venura, A.; Ferrari, P.; Benci, E.; Grando, A.
La Pediatria Medica e Chirurgica Medical and Surgical Pediatrics 10(4): 449-450
1988
ISSN/ISBN: 0391-5387 PMID: 3231552 Document Number: 316223
A case of Coffin-Lowry syndrome is reported. Severe mental retardation is associated with characteristic craniofacial anomalies, short stature and "soft hands". X-linked inheritance is supposed.
Document emailed within 1 workday
Related Documents
Kawana, Y.; Okamura, K.; Kurahashi, K. 2014: Boy with Coffin-Lowry syndrome associated with spinal cord injuries Masui. Japanese Journal of Anesthesiology 63(2): 203-205Soekarman, D.; Fryns, J.P. 1994: Corpus callosum agenesis in Coffin-Lowry syndrome Genetic Counseling 5(1): 77-80
Senel, S.; Ceylaner, S.; Ceylaner, G.; Sahin, A.H.; Andrieux, J.; Delaunoy, J.P. 2011: A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome Genetic Counseling 22(1): 21-24
Quintela, I.és.; Barros-Angueira, F.; Pérez-Gay, L.; Castro-Gago, M.; Carracedo, Án.; Eirís-Puñal, J.ús. 2015: Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks Revista de Neurologia 61(2): 94-96
van Heyst, A.F.; Kollée, L.A.; Brunner, H.G. 1993: The Coffin-Siris syndrome. Description of 4 patients and a literature review Tijdschrift Voor Kindergeneeskunde 61(1): 28-33
Foasso, M.F.; Hermier, M.; Descos, B.; Collet, J.P.; Perron, F. 1983: Coffin-Siris syndrome. Critical study of the literature apropos of a case Pediatrie 38(2): 111-117
Bonioli, E.; Sbolgi, P.; Bernaola, E.; Pacciani, G.; Cottafava, F. 1980: The "Charlie M." syndrome: a new clinical entity? Description of a case Minerva Pediatrica 32(10): 699-702
Manganelli, P.; Salaffi, F.; Ambanelli, U. 1989: Pseudo-Sjogren's syndrome in type IV hyperlipoproteinemia. Description of a clinical case Minerva Medica 80(9): 1031-1033
Besana, R.; Zuccotti, G.; Hangeldian, G.; Sala, R.; Riva, E. 1986: Rubinstein-Taybi syndrome. Description of a clinical case with positive familial inheritance Minerva Pediatrica 38(5-6): 159-164
Pruszczyński, M.; Smedts, F.; Sporny, S. 1987: Acquired immunodeficiency syndrome: clinical picture and changes in various organs (illustrated by description of a case) Polski Tygodnik Lekarski 42(2): 51-53
Spitali, G.; Tampieri, E.; Cavallini, B. 1981: The Wolff-Parkinson-White syndrome in the newborn infant. Description of a case and clinical considerations Minerva Cardioangiologica 29(6): 351-356
Frassani, R.; Gelsomino, S.; Puricelli, C. 1998: The Tirone Davis operation in a young patient with Marfan syndrome. Description of a clinical case Giornale Italiano di Cardiologia 28(9): 1017-1020
Piergiacomi, G.; Grassi, W.; Scendoni, P.; Caputi, A.; de Carolis, G.; Cervini, C. 1986: Association of carpal tunnel syndrome, Raynaud's phenomenon and cutaneous necrosis. Description of a clinical case Revue du Rhumatisme et des Maladies Osteo-Articulaires 53(6): 393-395
Rosselli, A.; Landini, G.; Mugnaini, C.; Villari, N.; Pieragnoli, E. 1987: Pure erythrocytosis and elevated erythropoietin. Review of the literature and description of a clinical case complicated by Budd-Chiari syndrome Giornale di Clinica Medica 68(2): 103-106
Geier, G.R. 2007: Nail the coffin on "coffin nails" Minnesota Medicine 90(2): 20
Aznar, R.; Lorente, F.; Sanmiguel, J.; Olmos, J.M.; Moro, M.J.; Muñoz, M. 1986: Recurrent infection syndrome with hypergammaglobulinemia e or Job's syndrome: description of a case Medicina Clinica 86(7): 292-294
Appiotti, A.; Trebini, F.; Scarzella, G. 1990: Peculiar clinical pictures of Guillain-Barré-Strohl syndrome. Description of 2 clinical cases Minerva Medica 81(10): 727-729
Sabbatini, F.; Actis-Giorgio, M.; Madaro, A.; Ravizza, L. 1996: Description of a case of Cotard's syndrome Minerva Psichiatrica 37(1): 35-37
Demikova, N.S.; Blinnikova, O.E.; Kozlova, V.M. 1987: Description of a case of Marshall's syndrome Pediatriia 10: 98-100
Martin, P.L.; Dallocchio, M.; Fourcade, J.P.; Clémenty, J.; Coqueran, J.; Choussat, A.; Bricaud, H. 1974: A description of a case of Conn's syndrome Journal de Radiologie d'Electrologie et de Medecine Nucleaire 55(5): 419-422