Ectodermal dysplasia - a family report (CROSBI ID 574285)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Brbora, Ivona ; Gabrić Pandurić, Dragana ; Gabrić, Katica ; Žeko, Ivo ; Mišković, Silvana ; Čulić, Vida
engleski
Ectodermal dysplasia - a family report
Ectodermal dysplasias (ED) are a heterogeneous group of genetically and heterogenous conditions that are characterized by abnormal development of ectodermal structures. The most affected structures are teeth, skin and its derivatives (hair, sweat glands) along with other ectodermal structures. The purpose of this work was to present the family with 3 boys affected with ED. We described the clinical report of male infant (sick twin) aged two months and his brothers with absence of eyebrows and eyelashes, saddle nose, dry flaky skin, rare thin blond hair, and large number of dental anomalies with pathohistological-skin positive analysis for ectodermal dysplasia. Oligodontia in the primary dentition in the case of two older brothers, as well as severe oligodontia in the permanent dentition was observed. Only a few abnormally formed teeth erupted (microdontia and conical teeth), and at the later then average age. Radiographic examination confirmed previous clinical findings and determined taurodontism of the molar teeth. Pseudoprognathisam of the mandible due to micrognathisam of the maxilla was also observed. Based on the positive familly history (two older brothers), clinical picture and pathohistological findings of the skin we concluded that the child was also affected with ED. We are still not able to do a gene test for this family, we have grown skin fibroblasts and isolated and frozen samples for DNA analysis for EDA gene, EDAR gene EDARADD form of ectodermal dysplasia, but also NEMO gene.
ectodermal dysplasia; genetics; dentistry; DNA analysis; clinics
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
283-283.
2011.
objavljeno
Podaci o matičnoj publikaciji
Final program and abstracts: the seventh ISABS conference in forensic, anthropologic and medical genetics and Mayo clinic lectures in translational medicine
Primorac, Dragan
Zagreb:
Podaci o skupu
The seventh ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic lectures in Translational Medicine: Fifth Croatian Human Genetics Conference
poster
20.06.2011-24.06.2011
Bol, Hrvatska