Kitoh H, Nogami H, Oki T, Arao K, Nagasaka M, Tanaka Y
Central Hospital, Aichi Prefectural Colony, Kasugai, Japan.
J Pediatr Orthop. 1996 Mar-Apr;16(2):243-6. doi: 10.1097/00004694-199603000-00021.
The Antley-Bixler syndrome is a rare disorder characterized by craniosynostosis, midface hypoplasia, radiohumeral synostosis, joint contractures, arachnodactyly, and femoral bowing and fractures. We report four cases with this disorder, all of which had craniosynostosis, midface hypoplasia with characteristic facial appearance, and contractures of bilateral elbow joints. However, femoral bowing, fractures, and arachnodactyly were not seen in our patients. In addition, proximal phalanges of the thumb and the great toe showed deformity of the delta phalanx in two cases. Characteristic features in these cases were the synostotic deformity of the elbow joint; three had radioulnahumeral synostosis, and one had radioulnar synostosis. Therefore, our cases indicated that various synostotic patterns of the elbow joints may exist in this syndrome. It is reasonable to propose that characteristic craniofacial appearance associated with the synostosis of the elbow joints of various forms should be considered minimal diagnostic criteria of the Antley-Bixler syndrome.
安特利-比克斯勒综合征是一种罕见的疾病，其特征为颅缝早闭、面中部发育不全、桡肱关节融合、关节挛缩、蜘蛛指（趾）以及股骨弯曲和骨折。我们报告了4例该疾病患者，所有患者均有颅缝早闭、具有特征性面容的面中部发育不全以及双侧肘关节挛缩。然而，我们的患者未出现股骨弯曲、骨折和蜘蛛指（趾）。此外，2例患者拇指和拇趾的近节指骨呈现出三角指骨畸形。这些病例的特征性表现为肘关节融合畸形；3例为桡尺肱关节融合，1例为桡尺关节融合。因此，我们的病例表明该综合征可能存在多种肘关节融合模式。提出将与各种形式肘关节融合相关的特征性颅面部外观视为安特利-比克斯勒综合征的最低诊断标准是合理的。
