14q24.1 DELETION: phenotypic characteristics and response to the use of recombinant human growth hormone

Abstract

Structural chromosomal changes on chromosome 14 are uncommon and can lead to a diverse spectrum of clinical manifestations, including hypotonia, delayed psychomotor development, cognitive deficits, and facial dysmorphisms. The specific phenotype is influenced by the location, extent, and breakpoints of the deletion. This case report aims to detail the phenotype and genotype of a preschooler with 14q24.1 deletion, in addition to documenting the response to treatment with recombinant human growth hormone (rhGH). The patient, a premature female, born with appropriate measurements for gestational age and daughter of non-consanguineous parents, presented respiratory discomfort and swallowing difficulties in the neonatal period, requiring gastrostomy until the first year of life. Between birth and two years and six months, she presented a reduction in growth speed and disproportionate short stature. Bilateral upper eyelid tilt, low ear insertion, posterior cleft palate, irregular dentition, micrognathia, retrognathia, scoliosis, shortening of the right femur with antalgic gait, agenesis of the left kidney and pelvic positioning of the right kidney were also observed. Furthermore, the patient exhibited delayed neuropsychomotor development. Genetic analysis revealed a deletion on the long arm of chromosome 14 of approximately 231 Kb. With rhGH treatment, an improvement in growth rate and final height was observed. The clinical evolution of the case indicates that the administration of rhGH, associated with strict clinical monitoring and treatment of comorbidities, can contribute to the improvement of anthropometric parameters.