Ala-Mello S, Peippo M
Department of Medical Genetics, Family Federation of Finland, Helsinki.
Clin Dysmorphol. 1996 Jan;5(1):85-8. doi: 10.1097/00019605-199601000-00014.
A 6-year-old boy with the Floating-Harbor syndrome (F-HS) is described. We propose that his exceptionally high-pitched voice and supernumerary upper incisor are additional diagnostic signs of F-HS. The elevated gliadin antibody levels suggest coeliac disease, which has been described in three out of the 15 previously reported F-HS patients. His facial features and delayed speech development are very characteristic but his shortness (-3 SD) is milder than usual. The patient is a sporadic case like all the F-HS cases so far.
本文描述了一名患有漂浮港综合征（F-HS）的6岁男孩。我们认为，他异常高亢的嗓音和额外的上颌切牙是F-HS的额外诊断体征。麦醇溶蛋白抗体水平升高提示乳糜泻，在之前报道的15例F-HS患者中有3例出现过这种情况。他的面部特征和语言发育迟缓非常典型，但他的身材矮小（-3标准差）比通常情况要轻。该患者与迄今为止所有的F-HS病例一样，为散发病例。
