Houlston R S, Collins A L, Dennis N R, Temple I K
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
Clin Dysmorphol. 1994 Apr;3(2):143-9.
We report two unrelated female patients aged 2- and 15-years-old with short stature, language delay and craniofacial anomalies consistent with the Floating-Harbor syndrome. One patient had evidence of coeliac disease. This increasingly recognized association suggests pleiotropism.
我们报告了两名无亲缘关系的女性患者,年龄分别为2岁和15岁,她们身材矮小、语言发育迟缓且存在与漂浮港综合征相符的颅面异常。其中一名患者有乳糜泻的证据。这种越来越被认可的关联提示了基因多效性。