El concepto de umbral craneofacial y su código de lectura ABC / The concept of craniofacial threshold and its ABC reading code

Durante el crecimiento y desarrollo de la cabeza, ésta lo hace en diferentes direcciones y proporciones, habiendo un límite entre la armonía /desarmonía conocido como umbral. Se hace referencia a este concepto, la forma de escribirlo y leerlo por medio de un código que lo simboliza. Objetivo: Poner al alcance de la comunidad médica un código de lectura e identificación de fenotipos craneofaciales sindrómicos y no sindrómicos. Conclusiones: Se considera que este concepto de umbral craneofacial y su código de lectura pueden ser usados en la enseñanza e investigación de la armonía-desarmonía durante el crecimiento y desarrollo de la cabeza, resultando ser de gran utilidad en la comprensión rápida y sencilla de la lectura del fenotipo craneofacial (AU)

During the growth and development of the head, it does so in different directions and proportions, there being a limit between the harmony / disharmony known as threshold. Reference is made to this concept, the way of writing it and reading it by means of a code that symbolizes it. Objective: To put within reach of the medical community, a code of reading and identification of syndromic and non-syndromic craniofacial phenotypes. Conclusions: It is considered that this concept of a craniofacial threshold and its reading code can be used in the teaching and research of harmony / disharmony during the growth and development of the head, being very useful in the quick and easy comprehension of the reading of the craniofacial phenotype (AU)

[Genetic heterogeneity and complexity of congenital heart defects]. / Congenitalis vitiumok genetikai heterogenitása és komplexitása.

Congenital heart defects are the most common birth defects, they account for approximately one third of all cases. They are clinically heterogeneous, vary widely in severity, treatability and prognosis and may occur as part of multiple developmental disorders, such as chromosome aberrations, microdeletion syndromes and monogenic diseases, or as isolated defects. Syndromic forms account for 25-40%, isolated forms for 60-75% of all cases. With conventional cytogenetic and next-generation molecular genetic methods, numerous genetic alterations have been identified in evolutionarily highly conserved genes of transcriptional regulators, signaling molecules and structural proteins, which are critical to normal cardiogenesis, mostly in cases with syndromic congenital heart defects. On the other hand, the genetic cause can be detected only in around 11% of isolated heart defects. The survival rate and life quality of patients with congenital heart defects have improved significantly in the last decades thanks to the remarkable development of prenatal, postnatal diagnostics as well as of heart and thoracic surgery of cardiovascular diseases. Since the number of patients, living into adulthood and reproductive age, is constantly increasing, the better understanding of the genetics of congenital heart defects may be crucial for the diagnosis, prognosis and positive family planning of patients. Orv Hetil. 2018; 159(17): 661-670.