A young female with asymmetric manifestations of Larsen syndromecolon; another example of unilateral somatic cellhyphen;line mosaicism

摘要

NA;Larsen syndrome is characterized by multiple congenital joint dislocations, typical skeletal defects and facial dysmorphism. In this article, we present a female patient with asymmetric Larsen syndrome. We hypothesise that the asymmetric distribution of clinical features in our patient is likely caused by posthyphen;zygotic somatic cellhyphen;line mosaicism of a dominant gene mutation.