Associated anomalies in cases with achondroplasia |
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| Institution: | 1. Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Egypt;2. Oro-dental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt;3. Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt;1. Department of Neurology, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium;2. Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, 9000, Ghent, Belgium;3. Center for Medical Genetics, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium;1. Human Molecular Genetics Laboratory, Faculty of Medicine of Sfax, University of Sfax, Tunisia;2. Center of Medical Genetics, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium;3. Medical Genetics Department, Hedi Chaker Hospital, Sfax, Tunisia;4. Water Researches and Technologies Center (CERTE), University of Carthage, Tourist Road Soliman, Nabeul, Tunisia;5. Toxicology, Environmental Microbiology and Health Research Laboratory (LR17ES06), Faculty of Sciences of Sfax, University of Sfax, Tunisia;6. Cytogenetics Department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris, Sorbonne Paris Cité, Paris Descartes University, Medical School, Paris, France;7. Department of Endocrinology, Hedi Chaker Hospital, Sfax, Tunisia;8. Department of Gynecology, HediChaker Hospital, Sfax, Tunisia;9. Fertility Clinic, Department of Gynecology and Obstetrics, Erasme Hospital, UniversitéLibre de Bruxelles, Brussels, Belgium;10. Genetics Department, CHI Poissy St Germain-en-Laye, F-78300, Poissy, France;11. RHuMA Team, UMR-BREED, INRAE-UVSQ-ENVA, UFR-SVS, F-78180, Montigny le Bretonneux, France;1. Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan;2. Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan;3. Department of Maxillofacial Orthognathics, Tokyo Medical and Dental University, Tokyo, Japan;4. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan;5. Department of Medical Genetics, Tokyo Medical and Dental University, Tokyo, Japan |
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| Abstract: | Associated congenital anomalies may be observed in cases with achondroplasia. The prevalence reported in the literature and the types of co-occurring congenital anomalies are variable between the reported studies. The aim of this study was to establish the prevalence and to describe the associated anomalies in cases with achondroplasia. This study included 25 cases ascertained from our registry of congenital anomalies including all terminations of pregnancy, stillbirths and live births between 1979 and 2007 in 387,067 consecutive births (the prevalence of achondroplasia was 6.4 per 100,000 births), and 223 cases ascertained from the French Little People organization built on the model of LPA (Little People of America, Inc.). Out of these 248 cases of achondroplasia 37 (14.9%) had associated anomalies including 4 (1.6%) cases with chromosomal abnormalities (2 trisomies 21, one 22 q11.2 deletion, and one 47, XXX), 2 (0.8%) cases with recognizable non-chromosomal conditions (one Moebius syndrome and one Pierre Robin sequence) and 31(12.5%) cases with MCA (multiple congenital anomalies). The 31 cases with MCA had 45 anomalies. Anomalies in the urogenital system (24.4%), the cardiovascular system (20.0%), the musculoskeletal system (15.5%), the central nervous system (11.1%), the eye (11.1%), and the orofacial system (8.8%) were the most common MCA. The overall prevalence of associated anomalies shows that the individuals with achondroplasia need a careful screening for other congenital anomalies. |
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| Keywords: | Achondroplasia Congenital anomalies Congenital malformations Dwarfism Small stature Skeletal dysplasia |
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