Romeo G, Zonana J, Rimoin D L, Lachman R S, Scott C I, Kaveggia E G, Spranger J W, Opitz J M
J Pediatr. 1977 Dec;91(6):918-23. doi: 10.1016/s0022-3476(77)80890-1.
The Grebe syndrome is a nonlethal form of severe short-limbed dwarfism which was previously called "achondrogenesis-Brazilian or Grebe type". We have studied three patients with severe short-limbed dwarfism originally considered to have this syndrome. On re-evaluation of their clinical and radiographic features, only one of them had the typical features of the Grebe chondrodysplasia, whereas the other two appear to have clearly distinct, previously unreported skeletal dysplasias. These patients illustrate the heterogeneity that exists among the nonlethal forms of severe short-limbed dwarfism.
格里布综合征是一种非致死性的严重短肢侏儒症，以前被称为“巴西软骨发育不全或格里布型”。我们研究了三名最初被认为患有该综合征的严重短肢侏儒症患者。在重新评估他们的临床和影像学特征后，只有其中一名患者具有格里布软骨发育异常的典型特征，而另外两名患者似乎患有明显不同的、以前未报道过的骨骼发育不良。这些患者说明了严重短肢侏儒症非致死形式中存在的异质性。
