Rare skeletal dysplasias: Classification - genetic approach and correlation of genotype to phenotype

Doctoral Dissertation uoadl:3218811 48 Read counter

Unit:
Faculty of Medicine
Library of the School of Health Sciences
Deposit date:
2022-06-14
Year:
2022
Author:
Christodoulou Michail
Dissertation committee:
Φρυσίρα Ελένη, Ομότιμη Καθηγήτρια , Ιατρική Σχολή, ΕΚΠΑ
Κίτσιου Σοφία , Ομότιμη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Κοντογεωργάκος Βασίλειος,Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Παπαγγελόπουλος Παναγιώτης, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Μαστρόκαλος Δημήτριος , Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Μαυρογένης Ανδρέας , Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Κούλαλης Δημήτριος , Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Σπάνιες σκελετικές δυσπλασίες: κατάταξη - γενετική προσέγγιση και συσχέτιση γονότυπου-φαινότυπου
Languages:
Greek
Translated title:
Rare skeletal dysplasias: Classification - genetic approach and correlation of genotype to phenotype
Summary:
In this PhD work medical records of the last 15 years were collected and processed from the archives of the Medical Genetics department, of the Medical Genetics Lab part of the Choremion Research Lab at the Agia Sophia Children’s Hospital. Besides those records data were collected from a Microsoft Access file and a genotype – phenotype relation was analyzed.During the prospective part of the study, patients were reexamined, were their evolution was recorded both clinically and paraclinically. The consequences in their daily activities of their deformities and interventions were accessed and were possible, molecular DNA tests pending were concluded.Those cases were then categorized initially according to the Nosology and classification of genetic skeletal disorders revision 2015 and as work progressed adjusted to the Nosology and classification of genetic skeletal disorders revision 2019, following the updates in the field of study. The results of those records of rare skeletal dysplasias in the Hellenic population are continuously being enlisted to the ESDN (European Skeletal Dysplasia Network) that is the European extension, of skeletal dysplasia data base recording.Those recordings in Greece and Europe create vast databases that enhance the diagnosis of skeletal dysplasias, some of which would otherwise prove to be rather challenging and expensive to fulfill.This work is the first of its kind and magnitude in Greece and paves the way to future continuation of such recording and study enhancing the creation of a skeletal dysplasia management network in Greece.
Main subject category:
Health Sciences
Keywords:
Skeletal dysplasias, Medical Genetics
Index:
No
Number of index pages:
0
Contains images:
Yes
Number of references:
36
Number of pages:
223
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