prikaz prve stranice dokumenta Klinička dismorfologija i razvojne anomalije
  Download
PDF 1.24 MB
Professional paper - Review paper
Klinička dismorfologija i razvojne anomalije
Medicina Fluminensis : Medicina Fluminensis, 46 (2010), 1; 5-18. urn:nbn:hr:184:819630
Pereza, Nina; Ostojić, Saša; Zergoller-Čupar, Ljiljana; Kapović, Miljenko; Peterlin, Borut

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

Cite this document

Pereza, N., Ostojić, S., Zergoller Čupar, Lj., Kapović, M. & Peterlin, B. (2010). Klinička dismorfologija i razvojne anomalije. Medicina Fluminensis : Medicina Fluminensis, 46. (1), 5-18. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:819630

Pereza, Nina, et al. "Klinička dismorfologija i razvojne anomalije." Medicina Fluminensis : Medicina Fluminensis, vol. 46, no. 1, 2010, pp. 5-18. https://urn.nsk.hr/urn:nbn:hr:184:819630

Pereza, Nina, Saša Ostojić, Ljiljana Zergoller Čupar, Miljenko Kapović and Borut Peterlin. "Klinička dismorfologija i razvojne anomalije." Medicina Fluminensis : Medicina Fluminensis 46, no. 1 (2010): 5-18. https://urn.nsk.hr/urn:nbn:hr:184:819630

Pereza, N., et al. (2010) 'Klinička dismorfologija i razvojne anomalije', Medicina Fluminensis : Medicina Fluminensis, 46(1), pp. 5-18. Available at: https://urn.nsk.hr/urn:nbn:hr:184:819630 (Accessed 02 May 2024)

Pereza N, Ostojić S, Zergoller Čupar Lj, Kapović M, Peterlin B. Klinička dismorfologija i razvojne anomalije. Medicina Fluminensis : Medicina Fluminensis [Internet]. 2010 March 01 [cited 2024 May 02];46(1):5-18. Available at: https://urn.nsk.hr/urn:nbn:hr:184:819630

N. Pereza, S. Ostojić, Lj. Zergoller Čupar, M. Kapović and B. Peterlin, "Klinička dismorfologija i razvojne anomalije", Medicina Fluminensis : Medicina Fluminensis, vol. 46, no. 1, pp. 5-18, March 2010. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:819630. [Accessed: 02 May 2024]

Metadata
Title (croatian)Klinička dismorfologija i razvojne anomalije
Title (english)Clinical dysmorphology and developmental anomalies
AuthorNina Pereza
AuthorSaša Ostojić
AuthorLjiljana Zergoller-Čupar
AuthorMiljenko Kapović
AuthorBorut Peterlin
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (croatian)
Postavljanje pravilne dijagnoze u djece i odraslih s dismorfnim kliničkim obilježjima, multiplim prirođenim anomalijama i/ili mentalnom retardacijom te poznavanje njihove etiologije i patogeneze nužno je radi predviđanja tijeka poremećaja, usmjeravanja kliničke obrade, budućeg genetičkog savjetovanja obitelji i srodnika te odabira pravilne terapije. Dismorfologija je grana kliničke genetike koja proučava obrasce ljudskog rasta, razvoja i prirođenih strukturnih poremećaja i podrazumijeva poznavanje kliničkih obilježja pojedinih genetičkih poremećaja te otkrivanje njihove molekularne etiologije i patogeneze. Pojam dismorfno označava fizička obilježja koja nisu tipična za osobe određene dobne skupine niti etničko podrijetlo, a posljedica su abnormalnog morfološkog razvoja. Proučavanje razvojnih dismorfija pridonijelo je trenutnom poimanju genetičke podloge izrazito složenih procesa normalnog rasta i razvoja čovjeka te otkrića uzročnih gena i mehanizama kojima ti geni utječu na normalnu embriogenezu. U ovom preglednom radu dajemo prikaz razvojnih anomalija te klinički pristup osobama sa strukturnim anomalijama.
Abstract (english)
Determination of diagnosis in children and adults with dysmorphic clinical features, multiple congenital anomalies and/or mental retardation, as well as understanding their etiology and pathogenesis enables the prediction of the course of congenital disorders, direction of clinical analysis, genetic counselling and selection of proper therapy. Dysmorphology is the study of patterns of human growth, development and congenital structural anomalies and is one of the core areas of clinical genetics. It implies the understanding of clinical features of genetic disorders, their molecular etiology and pathogenesis. A dysmorphic feature is a medical term referring to any physical feature which is not typical for people of certain age and ethnical group and is the consequence of abnormal morphogenesis. Studies of these developmental anomalies have contributed to the current understandings of genetic etiology of normal human growth and development as well as discovery of causative genes and mechanisms through which they affect normal embryogenesis. We present a concise review of developmental anomalies and clinical approach to people with structural developmental anomalies.
Keywords (croatian)
Keywords (english)
Languagecroatian
Publication typeProfessional paper - Review paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMedicina Fluminensis : Medicina Fluminensis
Numberingvol. 46, no. 1, pp. 5-18
p-ISSN0025-7729
URN:NBNurn:nbn:hr:184:819630
Publication2010-03-01
Document URLhttp://hrcak.srce.hr/48832
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-05-08 12:28:50