Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p110 | (1) | ICCBH2017

Case report: a potentially new skeletal dysplasia with autosomal recessive inheritance

Lekszas Caroline , Vona Barbara , Nanda Indrajit , Maroofian Reza , Haaf Thomas

Background: In this case report, we introduce a patient presenting a potentially unknown syndrome with skeletal involvement.Presenting problem: At the time of physical examination, the boy was 10 years old, displaying short stature (z-score=−4.4), hearing loss, visual impairment, delayed eruption of teeth and severe dental caries, dysmorphic facial features, micrognathia, mild platyspondyly and genu valgum. Although he appears to have normal intell...