Co-occurrence of Noonan and Cardio-facio-cutaneous syndrome features in a patient with KRAS variant

We report the case of a 3-year-old girl, who is the third child of nonconsanguineous parents with short stature, hypertrophic cardiomyopathy and mild dysmorphic features; all suggestive of Noonan syndrome. In addition, the patient presents with feeding difficulties, deep palmar and plantar creases, sparse hair, and delayed psychomotor and language development, all characteristics frequently observed in Cardio-facio-cutaneous syndrome. Molecular analysis of the Ras/MAPK pathway genes using high resolution melting curve analysis and gene sequencing revealed a de novo KRAS amino acid substitution of leucine to tryptophan at codon 53 (p.L53W). This substitution was recently described in an Iranian patient with Noonan syndrome. The findings described in the present report expand the phenotypic heterogeneity observed in RASopathy patients harbouring a KRAS substitution, and advocate for the inclusion of genes with low mutational frequency in genetic screening protocols for Noonan syndrome and other RASophaties

Manejo de Displasias Esqueléticas

Las displasias esqueléticas son un grupo heterogéneo de enfermedades caracterizadas por la alteración primaria del tejido óseo y/o cartilaginoso. La incidencia de muchas de estas entidades es desconocida, estimándose una incidencia general de 1 de 4.000 recién nacidos vivos. Frente a pacientes con restricción prenatal de crecimiento o que presentan talla baja durante la niñez, especialmente si existe desproporción corporal, debemos sospechar la presencia de una displasia esquelética. El estudio radiológico es fundamental para confirmar la afección ósea e intentar aproximarse a un diagnóstico preciso, pero requiere de especialistas expertos. En la actualidad contamos con estudio molecular confirmatorio y son las alteraciones de los genes FGFR3, COL2α1 y SHOX los que dan cuenta de las displasias que más frecuentemente observaremos en nuestra práctica clínica. En los últimos años la mayor precisión diagnóstica se ha acompañado de mayores oportunidades terapéuticas. El desarrollo de nuevas técnicas quirúrgicas de apoyo en casos de deformidades óseas y de técnicas menos invasivas de alargamiento han determinado mejoría en talla final, pero por sobre todo, en la calidad de vida de nuestros pacientes

Age of menarche and its relationship with body mass index and socioeconomic status Edad de la menarquia y su relación con el nivel socioeconó mico e índice de masa corporal

Background: A decline in the age of menarche was observed from early 1900s to the 1970s. However, it is not known if a further decline ocurred thereafter. Aim: To evaluate the age of menarche in girls from Santiago, Chile and its relationship with body mass index (BMI) and socioeconomic status. Material and Methods: We studied 1302 healthy girls aged 7 to 19 years. Age of menarche was evaluated through a questionnaire to the patient and her parents. Kaplan-Meier curves were used to determine age of menarche and Cox regression analysis was employed to evaluate the effect of the type of school and BMI on the age of menarche. Results: The mean age at menarche was 12.7±0.04 years. Girls from public and private schools had their period at 12.5±0.1 and 13.05±0.05 years respectively. A negative correlation between z scores for BMIand age of menarche was observed (r-0.3: p =0.001). Girls whose menarche occurred before 11.5 years had higher z scores for BMI and a larger proportion were overwei