Wolf-HIrschhorn syndrome: a classical chromosomal localization variant: first case reported in the colombian pediatric population Síndrome de Wolf-Hirschhorn: variante de localización cromosómica clásica, primer caso reportado en población pediátrica colombiana

Abstract

Introduction: Wolf-Hirschhorn (WHS) (OMIM: #194190-ORFA: 280) is a rare genetic disorder, resulting from a partial and distal deletion on the short arm of chromosome 4. Its clinical spectrum includes dysmorphic facial features, neurodevelopmental delay and cardiovascular, genitourinary tract and musculoskeletal anomalies. Case presentation: 10-year-old patient with a history of bilateral congenital glaucoma, with prior oculoplastic surgery, bilateral hip dislocation, neurodevelopmental delay, and syndromic short stature featuring the typical “Greek warrior helmet” facial dysmorphism, which suggested WHS. A genomic hybridization array was conducted, showing chromosome 4 deletion in chromosomal location 15.33, in the 11881248- 12219794 genomic region, compatible with WHS. Discussion: considering the typical chromosomal location of WHS, the literature describes the possibility of finding said deletion in various chromosomal locations, related to an increase in the clinical spectrum, as evidenced in our patient. Conclusions: early detection of cases featuring clinical manifestations compatible with WHS, has proved useful for the early implementation of currently available profiler genotype expression arrays, thus allowing early interventions which positively impact patients´ quality of life.