Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome.
We describe another observation of asymmetrical Larsen syndrome. The unilateral manifestation of the typical skeletal defects indicates that this condition might be due to unilateral somatic cell-line mosaicism.
Centre for Human Genetics, University Hospital Leuven, Belgium. philippe.debeer@med.kuleuven.ac.be
Ph
P
Debeer
L
L
De Borre
L
L
De Smet
J P
JP
Fryns
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002675:Child, Preschool; D003025:Clubfoot / Q000000981:diagnostic imaging / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000000981:diagnostic imaging / Q000235:genetics*; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics*; D011859:Radiography; D013577:Syndrome