Davalos I P, Figuera L E, Bobadilla L, Martinez-Martinez R, Matute E, Partida M G, Bañuelos L A, Ramirez-Dueñas M L
División de Genética, C.M.N.O. Instituto Mexicano del Seguro Social. Guadalajara Jalisco, México.
Genet Couns. 1996;7(4):283-8.
We describe a six year old Mexican girl whose clinical picture (short stature with delayed bone age, language difficulties and triangular face with prominent nose) was compatible with the diagnosis of Floating-Harbor Syndrome (FHS). A neuropsychological evaluation disclosed a mild mental retardation, a constructive apraxia, a comprehensive and expressive language impairment. The analysis of the present case and sixteen patients previously described establishes that the FHS is mainly characterized by proportionate short stature with significantly delayed bone age, delayed expressive language and peculiar face.
我们描述了一名6岁的墨西哥女孩,其临床表现(身材矮小且骨龄延迟、语言困难、面部呈三角形且鼻子突出)符合漂浮港综合征(FHS)的诊断。神经心理学评估显示存在轻度智力障碍、结构性失用症、综合性及表达性语言障碍。对本病例及先前描述的16例患者的分析表明,FHS的主要特征为匀称性身材矮小且骨龄显著延迟、表达性语言延迟及特殊面容。