A T Midro, B Olchowik, M Rogowska, E Hubert, E Hassman-Poznańska, A Papasz, S Szulc, A Wiśniewski
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引用次数: 0
摘要
浮港综合征是一个9岁的女孩，根据身材矮小，骨龄延迟，轻度智力迟钝，语言问题和特定的颅面特征诊断。根据慕尼黑畸形数据库(Stengel-Rutkowski et al.， 1996)的概念，给出了详细的表型描述，并与其他18份已发表的病例报告一起进行了评估，目的是描绘临床和人类学特征的频谱。
Floating Harbor syndrome. Case report and further syndrome delineation.
Floating Harbor syndrome was diagnosed in a 9 years old girl on the basis of short stature, delayed bone age, mild mental retardation, speech problems and specific craniofacial features. A detailed phenotype description is given and evaluated together with 18 other published case reports according to the concept of the Munich Dysmorphology Database (Stengel-Rutkowski et al., 1996) with the aim to delineate the spectrum of clinical and anthropological features.
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