A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism.
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 post-zygotic somatic cell-line mosaicism of a dominant gene mutation.
Frints
S G
SG
Center for Human Genetics, University Hospital of Leuven, Belgium.
De Smet
L
L
Fabry
G
G
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D019066:Facies; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D004204:Joint Dislocations / Q000151:congenital*; D009030:Mosaicism; D011859:Radiography; D013577:Syndrome