两名女性同胞中的MCA/MR综合征：是一种新的疾病实体，还是科芬-洛里综合征与阿特金-弗莱茨综合征的变异病例？
MCA/MR syndrome in two female siblings: new entity or variant examples of Coffin-Lowry versus Atkin-Flaitz syndromes?
作者信息
Jans A, Ippel E F, Dijkstra P F, Bijlsma J B
机构信息
Observation Center for Mentally Retarded Children De Hondsberg, Oisterwijk, The Netherlands.
出版信息
Genet Couns. 1992;3(3):139-43.
PMID:1388932
Abstract
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.
摘要
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。
Zotero 插件