Skeletal dysplasia and associated risk factors Description of 29 cases reported in 6 hospitals from Bogotá, Cali and Manizales
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Objective: Our aim was to conduct an analysis of risk factors from a population with skeletal dysplasia notified in some cities of Colombia in the last eight years. Methods: We conducted a case-control study in several Colombian hospitals participating in the Latin-American Collaborative Study of Congenital Malformations (ECLAMC, Spanish acronym). For the analysis 29 cases and 85 controls were included.
Results: In the quantitative variables we found statistical significance between cases and controls for paternal age, gestational age, number of gestations and birth weight. With regard to qualitative variables, the cases had a higher risk of birth weight less than 2500 g and low birth weight for the gestational age.
Conclusions: Skeletal dysplasias are a congenital malformation with a low frequency in the population studied and often lacking of a specific diagnostic. They are associated with advanced paternal age, low birth weight, gestational age and number of gestations.
anomalías congénitas, desarrollo óseo, diagnóstico prenatal, congenital abnormalities, bone development, prenatal diagnosis,
evaluation and management. First edition. Chicago: McGraw-Hill. 2008;
307-20.
2. Newman B, Wallis GA. Skeletal dysplasias caused by a disruption of
skeletal patterning and endochondral ossification. Clin Genet. 2003;63:241-51.
3. Spranger JW, Brill PW, Poznanski AK. Bone dysplasias. In: Atlas of genetic disorders of skeletal development. Second edition. New York: Oxford University Press. 2002;9-14.
4. Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet. 2002;113:65-77.
5. Krakow D, Lachman R, Rimoin D. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009;11:127-33.
6. Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB. Epidemiology of osteochondrodysplasias: Changing trends due to advances in prenatal diagnosis. Am J Med Genet. 1996;61:49-58.
7. Zarante I, Franco L, López C, Fernández N. Frecuencia de malformaciones congénitas. Evaluación y pronóstico de 53.744 nacimientos en cuatro ciudades colombianas. Biomédica. 2010;30:1-23.
8. Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, et al. Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 2009;34:160-70.