Jans A, Ippel E F, Dijkstra P F, Bijlsma J B
Observation Center for Mentally Retarded Children De Hondsberg, Oisterwijk, The Netherlands.
Genet Couns. 1992;3(3):139-43.
We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers. Although these patients' phenotypes showed considerable overlap with the Coffin-Lowry and the Atkin-Flaitz syndromes, their overall picture makes these diagnoses controversial.
我们报告了两姐妹，她们患有智力障碍、面部特征粗糙、眼距过宽、颧骨区域扁平、下唇突出、脊柱侧凸和手指逐渐变细。尽管这些患者的表型与科芬-洛里综合征和阿特金-弗莱茨综合征有相当大的重叠，但他们的整体情况使这些诊断存在争议。
