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 3.2 per 10,000 births from nine South American countries included in the ECLAMC network represents the most accurate estimate not just in Latin America, but worldwide. In Brazil, there are currently five groups focused on SD. The data from one of these groups including the website www.ocd.med.br, created to assist in the diagnosis of SD, are highlighted showing that telemedicine for this purpose represents a good strategy for the region. The experience of more than 30 years of the SD multidisciplinary clinic in an Argentinian Hospital is presented, evidencing a solid experience mainly in the follow-up of the most frequent SD, especially those belonging the FGFR3 group and OI. In Chile, a group with 20 years of experience presents its work with geneticists and pediatricians, focusing on diagnostic purposes and clinical management. Altogether, although SD health-care and research activities in Latin America are in their early stages, the experience in these three countries seems promising and stimulating for the region as a whole.

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.1085dup p.(Leu362Phefs*19) and c.794A>G p.(Asn265Ser). This article could help in establishing the correlation between genotype and phenotype of this disorder, comparing with other cases previously described.

Coccidia in passerines from the Nevado de Toluca National Park, Mexico.

In this study, we found unsporulated coccidia oocysts in passerines from the Nevado de Toluca National Park, Mexico. We captured birds and took samples of their droppings during three field visits. We examined a total of 72 fecal samples and found unsporulated coccidia oocysts in 10 samples from five passerine species: Atlapetes pileatus (3), Cardelina ruber (1), Mniotilta varia (1), Oreothlypis celata (2) and Regulus calendula (3). This appears to be the first recorded study of unsporulated coccidia oocysts in passerine species from Mexico.

Ausencia congénita de la vena porta hepática asociada a malrotación intestinal y a vena cava inferior izquierda: reporte de caso / Congenital absence of the hepatic portal vein associated to intestinal malrotation and left-sided inferior vena cava: a case report

La ausencia congénita de la vena porta hepática es una malformación en extremo rara, fue descrita por primera vez en 1793 por John Abernethy y a la fecha se han reportado sólo 101 casos. Afecta con mayor frecuencia a mujeres y determina que el drenaje venoso intestinal sea derivado hacia el territorio de las venas sistémicas. Es también conocida como derivación porto-sistémica extra hepática congénita (CEPS), por su sigla en inglés, y se asocia a otras alteraciones congénitas,incluyendo anomalías cardíacas, de las vías biliares, enfermedades metabólicas y retardo mental. En este trabajo presentamos el hallazgo de esta malformación en el cadáver de un niño de dos años de edad, donde la vena porta seguía un trayecto anómalo y se unía a la vena renal derecha. El confluente venoso "mesentérico-esplénico-renal" así formado presentaba un trayecto descendente, recibía a la vena gonadal derecha, y desembocando en la confluencia de las venas ilíacas comunes. Esto se asociaba a mal rotación intestinal, arteria hepática aberrante y a vena cava inferior izquierda, situación descrita sólo una vez en la literatura. El hallazgo de estas anomalías anatómicas en los cadáveres disecados con fines docentes en nuestro Departamento de Anatomía, tiene un valor formativo indiscutible para nuestros alumnos de pre y postgrado, quienes pueden valorar las implicancias de este conocimiento anatómico en la clínica diaria.

Congenital absence of the hepatic portal vein is an extremely rare malformation that was first described by John Abernethy in 1793. Only 101 cases had been described in the literature until 2015 and most affected females. In this anomaly, also known as congenital extrahepatic porto-systemic shunt (CEPS), intestinal venous drainage is derived towards the territory of the systemic veins and could be associated with other birth defects, including heart and biliary tract anomalies, metabolic diseases, mental retardation. We present the case of a 2-year-old boy who died because of multifocal pneumonia and necropsy showed anatomical findings consistent with this malformation as an incidental finding. The portal vein followed an anomalous course and joined the right renal vein, forming the "mesenteric-splenic-renal" venous collector, which then received the right gonadal vein and ended at the confluence of the common iliac veins. In our case this anomaly was associated to intestinal malrotation, aberrant hepatic artery and persistent left inferior vena cava, situation described once in the literature. The finding of these anatomical abnormalities in cadavers has a great teaching value for our undergraduate and graduate students who are learning anatomy and they can also assess the associated clinical.

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. The objective of this study is to determine if there is a clinical association between IPT and NUA. A case-control study was made in a Pediatric hospital in Santiago, Chile, with infants born between April 2000 and April 2005, considering as cases those with IPT, and controls those infants born following the cases, paired by sex and without IPT. All subjects had a complete physical examination and a renal ultrasound to assess for the presence of congenital anomalies and NUA, respectively. One hundred cases and an equal number of controls were included. There were 41 females in each group. In the case group, two infants presented renal anomalies in the RUS: one left hydronephrosis and one case of left kidney agenesis. In the control group, two infants with anomaly were found: one with a left ureterocele and one case of bilateral duplex kidney. The observed incidence of NUA was similar in both groups to that reported in the literature for the general population. No significant statistical difference was found in the incidence of these abnormalities between patients who presented with IPT and those who did not. From our study, we suggest that RUS is not necessary in the routine evaluation of infants with IPT.