Bain M D, Winter R M, Burn J
J Med Genet. 1986 Aug;23(4):350-4. doi: 10.1136/jmg.23.4.350.
A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. An attempt is also made to distinguish between the phenotype of autosomal dominant and recessive cases on the basis of the familial cases in this paper and other reported cases.
本文描述了一个家庭，父亲及其两个孩子患有鲁宾诺综合征，但没有一致的短肢或侏儒症。还描述了另外两例散发病例，一例患有肢根型短肢和侏儒症，另一例患有肢体普遍性缩短。本文还试图根据本文中的家族病例和其他报道的病例，区分常染色体显性和隐性病例的表型。
