Costa T, Ramsby G, Cassia F, Peters K R, Soares J, Correa J, Quelce-Salgado A, Tsipouras P
Department of Pediatrics, Hospital for Sick Children, Toronto, Canada.
Am J Med Genet. 1998 Feb 17;75(5):523-9. doi: 10.1002/(sici)1096-8628(19980217)75:5<523::aid-ajmg13>3.0.co;2-m.
Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied, clinically and radiographically, 10 affected individuals, originating from Bahia, Brazil. The phenotype is characterized by a normal axial skeleton and severely shortened and deformed limbs, with a proximo-distal gradient of severity. The humeri and femora were relatively normal, the radii/ulnae and tibiae/fibulae were short and deformed, carpal and tarsal bones were fused, and several metacarpal and metatarsal bones were absent. The proximal and middle phalanges of the fingers and toes were invariably absent, while the distal phalanges were present. Postaxial polydactyly was found in several affected individuals. Several joints of the carpus, tarsus, hand, and foot were absent. Heterozygotes presented with a variety of skeletal manifestations including polydactyly, brachydactyly, hallux valgus, and metatarsus adductus. Grebe syndrome is caused by a missense mutation in the gene encoding cartilage-derived morphogenetic protein-1.
格布综合征是一种隐性遗传的肢端中胚层发育不良。我们对来自巴西巴伊亚州的10名患者进行了临床和影像学研究。其表型特征为轴向骨骼正常，四肢严重缩短并畸形，严重程度呈近端到远端递减。肱骨和股骨相对正常，桡骨/尺骨和胫骨/腓骨短且畸形，腕骨和跗骨融合，多块掌骨和跖骨缺失。手指和脚趾的近端和中间指骨总是缺失，而远端指骨存在。在几名患者中发现了轴后多指畸形。腕关节、跗关节、手和足部的多个关节缺失。杂合子表现出多种骨骼表现，包括多指畸形、短指畸形、拇外翻和内收跖骨。格布综合征由编码软骨衍生形态发生蛋白-1的基因中的错义突变引起。
