[Larsen syndrome--symptomatics and therapy (author's transl)].
We report of three children suffering from Larsen-syndrome with the typical deformity of the face and multiple, mostly bilateral joint-luxations with severe affection of the hip-joints and knee-joints. Two patients had short terminal phalanxes with the typically spatulate terminal phalanxes of the thumb, radiographically visible. One child showed bilaterally dysplastic metacarpophalangeal bones with luxated metaphalanxes. The diagnosis could furtheron be verified by the characteristically twin-formed bone-nucleus of the calcaneus within all patients. Two children early showed a severe, progrediently developing scoliosis of the thoracal spine. The genetic aetiology of this syndrome, caused by a congenital weakness of the connective tissue, is not yet cleared completely. Especially the severe knee-joint luxations are therapeutically a critical problem. The multiple operative interventions which are necessary in the regions of the knee-joint, do not always lead to the expected success of treatment on account of the considerable weakness of the connective tissue. Therefore, additionally orthopaedic remedies are necessary. The already early progrediently developing scoliosis of the spine requires careful treatments with Milwaukee brace. A spondylodesis should be performed in the age from 6 to 8 years on account of the progredience. In any case, it is necessary to investigate carefully for accompanying malformations of the urinary passage.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D003025:Clubfoot / Q000175:diagnosis* / Q000601:surgery; D005145:Face / Q000002:abnormalities*; D005260:Female; D006618:Hip Dislocation, Congenital / Q000175:diagnosis / Q000601:surgery; D006801:Humans; D004204:Joint Dislocations / Q000175:diagnosis / Q000601:surgery; D007719:Knee Joint; D008297:Male; D013577:Syndrome
Larsen-Syndrom--Symptomatik und Therapie.