Haan E A, Furness M E, Knowles S, Morris L L, Scott G, Svigos J M, Vigneswaren R
Department of Medical Genetics, Adelaide Children's Hospital, Australia.
Am J Med Genet. 1989 Jun;33(2):224-7. doi: 10.1002/ajmg.1320330216.
We describe a male infant with microcephalic osteodysplastic primordial dwarfism. The clinical and radiological manifestations most closely resemble those of the patient described by Winter et al. to have manifestations overlapping with both osteodysplastic primordial dwarfism types I and III. The classification of the patient within the spectrum of osteodysplastic primordial dwarfism is discussed and the distinctive neuropathology documented.
我们描述了一名患有小头畸形骨发育不良原发性侏儒症的男婴。其临床和放射学表现与Winter等人描述的患者最为相似，具有与I型和III型骨发育不良原发性侏儒症重叠的表现。本文讨论了该患者在骨发育不良原发性侏儒症谱系中的分类，并记录了其独特的神经病理学特征。
