Pitt D B, Rogers J G, Danks D M
Am J Med Genet. 1984 Oct;19(2):307-13. doi: 10.1002/ajmg.1320190213.
We describe two mentally retarded sisters with intrauterine growth retardation and subsequent dwarfism and an unusual and characteristic face together with two other unrelated patients with similar manifestations. These four patients may represent a new autosomal recessive syndrome.
我们描述了两名智力发育迟缓的姐妹,她们患有宫内生长迟缓及随后的侏儒症,并有一张不同寻常且具有特征性的面容,还描述了另外两名有类似表现的无关患者。这四名患者可能代表一种新的常染色体隐性综合征。