Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation

In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening or mutations at the IRF6 gene detected a pathogenic mutation (c.960G > C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C > G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed.

A família e o indivíduo no curso vital: compreensão trigeracional sobre a morte e o morrer

The death has been considered a forbidden issue. To develop studies that promote reflections about it allows the enlargement of the understanding as regarding the death as about life in that both are related during the human existence. This research aimed to understand the death’s conceptions and family meanings to three different generations. For this goal, through phenomenological methodology, were achieved individual interviews with adolescents, both his parents and the grandfather, all belonging to the same family. After to understand the participant’s experiences, six thematic categories were created: a) Death’s meanings; b) The death of himself; c) The death of another and/or its possibility; d) Sources of support; e) The family in the death’s presence; f) The life in the death’s inevitability presence. From these categories, the dates were phenomenologically. The participants showed similar reports in several times, confirming the literature that says that the daily life experiences among the family members take the family to form a peculiar way to understand and an interpret their experiences. This identity family, however, did not prevent each participant to develop his particular history based in idiosyncratic elements and associated with the stage of life cycle that it is. The reports showed that the prohibition of death in society is still very present, which prevents that discussions about the issue are present in daily life. This study provided for participants to reflect on their experiences around the phenomenon of death and, consequently, about the inseparable relationship between living and dying. It has also reiterated the literature, showing the similarity of views among the family members of three generations face a vital phenomenon potentially impacting the life cycle of individual and family.