Background: Achondrogenesis type IA (ACG1A) is a rare, lethal autosomal recessive chondrodysplasia affecting endochondral bone ossification and differentiation, causing intrauterine growth restriction, narrow thorax, and short limbs. Mutations in TRIP11, which encodes Golgi microtubule-binding protein 210 in the Golgi apparatus, alter protein transport in tissues. Case presentation: A 28-week gestation male fetus was diagnosed with ACG1A by clinical, radiological, histologic, and molecular findings. Results: Whole exome sequencing was performed on fetal DNA and parental blood. Two fetal heterozygous novel variants of TRIP11, c.2304_2307delTCAA (p.Asn768Lysfs*7) and c.2128_2129delAT (p.lle710Cysfs*19), were inherited from the mother and father, respectively. Both variants created a reading frameshift leading to a premature stop codon and loss of protein function. Conclusion: To our knowledge, this is the first Latin American report with clinical, radiographic, and molecular diagnosis of ACG1A. Clinical and molecular diagnosis in utero is essential for genotype–phenotype correlation and is useful for providing better genetic counseling.

Introducción. Hay pocas series de casos publicadas sobre la prevalencia y el curso clínico del dengue en adultos mayores con síndrome febril, habitantes en zonas endémicas para la infección. Se cree que tales casos presentan una baja prevalencia pero revisten mayor gravedad, y más complicaciones y mortalidad.Objetivos. Describir la prevalencia y el curso clínico del dengue en adultos mayores atendidos por síndrome febril agudo en un hospital de alta complejidad de una zona endémica de la enfermedad.Materiales y métodos. Se hizo un estudio observacional descriptivo en una cohorte de pacientes adultos mayores con diagnóstico serológico confirmado de dengue entre el 2011 y el 2014.Resultados. Se evaluaron las historias clínicas de 235 pacientes adultos mayores con cuadro febril agudo y se confirmó la infección en solo 43 (18,3 %) de ellos. La mediana de edad de los pacientes con diagnóstico confirmado fue de 71 años y 48,7 % correspondía a mujeres; 89 % de los pacientes presentaba al menos otra enfermedad concomitante; 51,4 % fue positivo para Ag NS1, 27 % para IgM y 54,1 % para IgG, en tanto que 64,8 % correspondió a infecciones secundarias. Los casos clasificados como dengue fueron 13 (35 %), como dengue con signos de alarma, 16 (43 %), y como dengue grave, 8 (22 %). Se hospitalizó a 56,7 % de los pacientes, de los cuales 21,6 % fue internado en la unidad de cuidados intensivos. No hubo casos fatales.Conclusión. La infección por dengue fue frecuente en adultos mayores como causa de síndrome febril agudo. Una importante proporción requirió hospitalización y presentó complicaciones, sin embargo, el manejo adecuado evitó los casos fatales.

Introduction: Mutations in ABCC9 are associated with Cantú syndrome (CS), a very rare genetic disorder characterized by congenital hypertrichosis, acromegaloid facial appearance (AFA), cardiomegaly, and skeletal anomalies. Case report: We report an 8-year-old female patient with congenital generalized hypertrichosis and coarse facial appearance but without cardiovascular or skeletal compromise. Whole exome sequencing revealed a novel de novo heterozygous mutation in ABCC9. In addition, the genotype and phenotype of the patient were compared with those of the patients reported in the literature and with other related conditions that include AFA, hypertrichosis and AFA, and CS. Conclusion: This is the first report of a South-American patient with mutation in ABCC9. We propose that her phenotype is a part of a spectrum of features associated with congenital hypertrichosis and mutations in ABCC9, which differs from CS and related disorders. Whole exome sequencing enabled the identification of the causality of this disease characterized by high clinical and genetic heterogeneity.

The potential association of congenital dermal melanocytosis as a marker for lysosomal storage disease in infancy is rarely studied. A few cases of congenital dermal melanocytosis in association with lysosomal storage diseases have been reported. GM1 gangliosidosis type 1 and Hurler syndrome are the most common underlying lysosomal disorders associated with dermal melanocytosis. We present two non-relative patients with Hurler’s Syndrome who exhibited cutaneous manifestations. Both cases had a recurrent genetic variant c.1045G>T (p.Asp349Tyr) in the IDUA gene, located in a highly conserved amino acid position. We encourage the role of cutaneous findings in early suspicion and detection of inborn errors of metabolism, as well as differential diagnoses in a newborn with this finding.

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum] Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D. The Application of Clinical Genetics. 2018;11:15–21.In the main title (page 15) and in the first column, third row of Table 1 (page 17), the gene name ABBC9 should be ABCC9.Read the original article.