806 Rare Genetic Anomalies in a Case with Growth Retardation

Abstract

Background and aims: To emphasize the genetic background of a child with growth failure. Methods: The authors have evaluated a 7 year-old boy in context of failure to thrive. The family history: no related parents. The clinical exam: normal proportioned body, height -3.73 SD, weight -2.078 SD, microcephaly, face dimorphism (down-slanted palpebral fissures), 2nd and 5th fingers clinodactily for both hands, mental retardation, hypoprosexia and aggressive behavior. Achondroplasia and familial short stature were excluded based on clinical criteria. Results: The blood tests revealed negative serology for celiac disease. The sweat test was normal. Endocrinological evaluation: normal thyroid gland function, low levels for growth hormone and IGF-1 (baseline and after clonidine and insulin stimulation tests). Regarding imagistic investigations: delayed skeletal maturation and cerebral IRM without brain or sella anomalies. Short stature associated with mental disabilities have justified genetic tests (karyotype) identifying double translocation between 1 and 13 chromosomes and between 5 and 11 chromosomes [46, XY, t(1:13) (p31.2; q32), t(5;11) (q14;q25)]. Due to normal parents' karyotypes we consider this genetic anomalies as “de novo”. The growth hormone therapy was followed by improvement of growth velocity. Conclusions: The authors present a child with short stature secondary to growth hormone deficiency associated with very rare and “de novo” genetic anomalies. There is a chance that one of the four breakpoints disrupts a major gene on 1p31.2 or 13q32 or 5q14 or 11q25. Another possibility is a submicroscopic deletion on one of these four loci, justifying further cytogenetic investigations.