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Experience of a skeletal dysplasia registry in Turkey: A five‐years retrospective analysis
Author(s) -
KurtSukur Eda Didem,
SimsekKiper Pelin Ozlem,
Utine Gülen Eda,
Boduroglu Koray,
Alanay Yasemin
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37122
Subject(s) - achondroplasia , consanguinity , osteogenesis imperfecta , craniofacial , retrospective cohort study , dysplasia , medicine , pediatrics , incidence (geometry) , skeleton (computer programming) , surgery , pathology , anatomy , physics , psychiatry , optics
This study shares data on 417 patients with genetic disorders of skeleton including 10 fetal autopsies encountered in a 5‐year period at a tertiary university hospital in Ankara, Turkey. We included patients with osteochondrodysplasias, excluding overgrowth syndromes, dysostoses, and craniofacial syndromes. When grouped according to the “International Skeletal Dysplasia Society 2010 classification” the most frequent group is “FGFR3 group” (achondroplasia). “Decreased bone density group” takes the second place, consistent with the literature. We also demonstrated, a relatively higher frequency of recessively inherited skeletal dysplasias when the diagnosis is an entity other than achondroplasia or osteogenesis imperfecta. The literature on the incidence of genetic disorders of skeleton from the Middle East and Eastern Mediterranean is limited to fetal and neonatal autopsies or birth prevelance reports. The higher rate of consanguineous marriages which increases the frequency of autosomal recessive entities makes it difficult to apply data from other parts of the world. Total consanguinity rate among parents in our study was 53% and there were regional differences. The highest (79%) was among parents from South‐east Anatolia. This study is the first broad retrospective analysis of genetic disorders of skeleton from our region. We aim to provide a descriptive source for future studies and discuss our findings in comparison to reports from other parts of the world. © 2015 Wiley Periodicals, Inc.