Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.

Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1880 kb microdeletion at 6p25.3 identified by whole-genome array analysis, and was mainly attributable to a FOXC1 haploinsufficiency. Currently 37 patients with r(6) have been reported. We found that facial dysmorphism, ASD, heart anomalies, brain anomalies, and hearing loss are constant features only in severe cases of r(6), mainly related to hemizygosity of FOXC1. Thus, overlaps with other FOXC1 related phenotypes, such as the 6p25 deletion syndrome, Axenfeld-Rieger syndrome type 3, and ASD type 3. Contrarily, those patients whose r(6) does not disrupt FOXC1, have mild or moderate phenotypes and do not exhibit ASD.

[Dermatoglyphics differences among children with nephrotic syndrome according to steroid response]. / Diferencias en los dermatoglifos de niños con síndrome nefrótico de acuerdo a su respuesta a esteroides.

BACKGROUND: Although the association between the type of idiopathic nephrotic syndrome (INS) and a peculiar pattern of fingerprints digital would suggest the presence of genetic factors related to both, this has not been previously studied. This study aimed to evaluate if there are fingerprints patterns differences between children with steroid-resistant INS (SRNS) and those with steroid-sensitive INS (SSNS). METHODS: The frequencies distribution of arches, ulnar loops, radial loops, and whorls was studied in 60 children with SRNS, and 60 children with SSNS. Bivariate analysis to detect the relationship between each fingerprint pattern with the study groups was performed by chi-square test and to evaluate its possible association, the odds ratios (OR) were calculated with 95% confidence's intervals (95%CI). RESULTS: The patients with SRNS had a higher frequency of digital whorls compared with that of patients with SSNS (46.7% vs. 30.7%, p = 0.005). Additional comparisons using a "whorls excesses" definition obtained from normative data in our population (≥ 7 whorls in females or ≥ 8 in males) were associated with increased odds for SRNS (OR 2.96, 95% CI 1.15-7.61). CONCLUSIONS: Our findings indicate that there are differences between children with SRNS and SSNS at the level of digital dermatoglyphics, but further studies are needed to confirm this association and its possible implications.

Introducción: aunque la asociación entre el tipo de síndrome nefrótico idiopático (SNI) y algún patrón peculiar de huellas digitales sugeriría la presencia de factores genéticos relacionados a ambos, esto no ha sido previamente estudiado. Este estudio pretende evaluar si existen diferencias entre los patrones digitales de niños con SNI resistente a esteroides (SNRE) y aquellos con el SNI sensible a esteroides (SNSE). Métodos: se estudiaron las frecuencias de arcos, asas cubitales, asas radiales y rizos en 60 niños con SNRE y 60 niños con SNSE. Se realizó análisis bivariado para detectar la relación entre cada figura digital y los grupos de estudio mediante la prueba de Chi cuadrada y para evaluar su posible asociación se calcularon los odds ratio (OR) con sus intervalos de confianza del 95 %. Resultados: los pacientes con SNRE tuvieron una mayor frecuencia de rizos en comparación con pacientes con SNSE (46.7 % frente a 30.7 %, p = 0.005). Comparaciones adicionales utilizando una definición de «excesos de rizos¼ obtenida datos normativos previos de nuestra población (≥ 7 rizos en mujeres o ≥ 8 en varones), también se asoció a la presencia de SNRE (OR: 2.96, IC95 %: 1.15-7.61). Conclusiones: estos hallazgos indican que existen diferencias entre los niños con SNRE y SNSE a nivel de los dermatoglifos digitales, aunque son necesarios estudios adicionales para confirmar la presente asociación y sus posibles implicaciones.

Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1.

Timothy syndrome 1 (TS1) is a multisystem disorder characterized by severe QT prolongation and potentially lethal ventricular arrhythmias in the first years of life, plus other cardiac and extracardiac manifestations caused by mutation in the CACNA1C gene, a CaV1.2 L-type calcium channel. Here, we report retrospectively an unusual fetal presentation on a second patient with TS1 with fetal hydrops due to a congenital AV block and its postnatal diagnosis by a marked prolongation of the corrected QTc interval of 570 ms and a missense mutation, p.Gly406Arg, in exon 8A of CACNA1C gene. The observed manifestations in our patient during fetal period indicate a severe form and they were probably exacerbated by the maternal use of amitriptyline during the first 4 months of pregnancy. Unfortunately, he died at 3 months-old due a ventricular tachycardia and fibrillation related to a septic event. Although difficult to diagnose, possibly most fetuses with TS1 have symptoms of long QT syndrome. Despite the fatal outcome for our patient, an early diagnosis of TS may help to prevent life-threatening events or early death in future patients, especially in developing countries where availability of therapies such as cardioverter defibrillator are very limited, or require time for its funding.