Larsen's syndrome. Case report and discussion.
The writers present the case of a small girl affected by Larsen's syndrome. Her brother had the same syndrome. Surgical reduction of the dislocated knees was performed at the age of two months, followed by immobilisation in a spica plaster. At operation it was found that both patellae, which are cartilaginous at that age, were absent. On the basis of recent literature and the heterogeneous manifestations of the syndrome, the authors discuss the pathogenetic theories, the differential diagnosis, and the current therapeutic possibilities.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000601:surgery; D003025:Clubfoot / Q000235:genetics* / Q000601:surgery; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities*; D005260:Female; D005817:Genetic Counseling; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000601:surgery; D007719:Knee Joint / Q000601:surgery; D013577:Syndrome
D006025:Glycosaminoglycans