Skeletal dysplasias in Latin America.

Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the care of these patients. From the epidemiological point of view, the SD prevalence of 3.

Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile.

We report the first case of mandibuloacral dysplasia with type B lipodystrophy (MADB) in Chile, South America. MADB is a very rare illness, characterized by short stature, mandibular hypoplasia, acro-osteolysis in hands, feet and clavicles, lipodystrophy, changes in skin pigments and skin calcinosis at knees and hands. Diagnosis was confirmed by molecular study that showed two compound heterozygous variants in ZMPSTE24 gene, c.

Association of isolated preauricular tags and nephrourological anomalies: case-control study.

Isolated preauricular tags (IPT) are considered minor malformations whereas nephrourological anomalies (NUA) are considered major malformations. Their incidences fluctuate between 5 and 10 per 1,000 and 1-3 per 100 live births, respectively. There is contradictory evidence regarding the incidence of NUA in infants with IPT.