Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.
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.
Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.
Eda Didem
ED
Kurt-Sukur
Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.
Pelin Ozlem
PO
Simsek-Kiper
Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.
Gülen Eda
GE
Utine
Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.
Koray
K
Boduroglu
Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.|Pediatric Genetics, Department of Pediatrics, Acibadem University School of Medicine, İstanbul, Turkey.
Yasemin
Y
Alanay
D000130:Achondroplasia / Q000235:genetics; D000293:Adolescent; D001344:Autopsy / Q000379:methods; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics; D010013:Osteogenesis Imperfecta / Q000235:genetics; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D012042:Registries; D012189:Retrospective Studies; D014421:Turkey
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3
autosomal recessive inheritance; consanguinity; dysostoses; osteochondrodysplasia; skeletal dysplasia