[Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].
Arch Argent Pediatr 2017 Jun;115(3):e170-e174
Escuela de Medicina, Universidad Industrial de Santander.
Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. Read More