Moses G, Howard C, Bar-Ziv J, Dekel S, Nyska M
Department of Orthopaedic and Traumatic Surgery, Ichilov Hospital, Jerusalem, Israel.
J Pediatr Orthop B. 1998 Jul;7(3):193-8. doi: 10.1097/01202412-199807000-00003.
Ten patients with Laurence-Moon-Biedl-Bardet syndrome were investigated. They all belonged to one large family within which several intermarriages had taken place. We found that, apart from the already described abnormalities, these patients suffered from dysgenesis of the following epiphyses: vertebrae, proximal femur, proximal tibia, capitellum, tarsal navicular, and the distal epiphysis of the first metatarsal. The degree of polydactyly, a prominent feature of this syndrome, varied from patient to patient, ranging from a wide fifth metatarsal or metacarpal to a complete sixth digit. As in other epiphyseal dysgenesis, a pseudoepiphysis of the distal first metacarpal was present. One patient (the eldest) was tetraparetic due to severe spinal stenosis.
对10例劳-穆-比-巴综合征患者进行了研究。他们都属于一个大家族，家族内部有多次近亲结婚。我们发现，除了已描述的异常情况外，这些患者还存在以下骨骺发育异常：椎体、股骨近端、胫骨近端、肱骨小头、足舟骨以及第一跖骨远端骨骺。多指畸形是该综合征的一个显著特征，其程度在患者之间有所不同，从宽的第五跖骨或掌骨到完整的第六指不等。与其他骨骺发育异常一样，第一掌骨远端存在假骨骺。1例患者（最年长的）因严重的椎管狭窄而出现四肢瘫痪。
