Chromosome 5q-syndrome-ENT pathologies

Abstract

The interstitial deletion of chromosome 5q is a disease of rare incidence, which might be hereditary or caused by spontaneous changes within the chromosome respectively. The pathology is based on the loss of chromosomal material within the long arm of chromosome 5. Clinical manifestations are mainly known in hematology, particular such as malignancies or hematopoetic malformation. Other morphological characteristics that have been described following deletion of chromosome 5q are deformity of the skull and the joints as well as heart defects. In the following we will present some pathologic findings focussing on the head and neck. We introduce a young female patient of 8 months with deletion of the long arm of chromosome 5q. In addition to the known skeletal and hematopoetic disorders we discovered a unilateral deafness and a contralateral middle-graded combined hearing-loss as well as laryngomalacia. Infants with chromosome 5 syndrome should undergo an otorhinolaryngological examination to investigate anatomic malformations. In particular a brainstem electric response audiometry should be considered for early diagnosis and treatment of a possible hearing-loss. This ensures adequate and early support of the patients physical and psychological development.