Allanson J E
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Am J Med Genet Suppl. 1990;6:38-41. doi: 10.1002/ajmg.1320370606.
Rubinstein-Taybi syndrome is a rare multiple congenital anomaly (MCA) syndrome comprising mental and growth retardation, broad thumbs and big toes, and unusual face. The classical appearance is easy to recognize. It includes downslant of the palpebral fissures, epicanthal folds, ptosis, strabismus, highly arched palate, and apparently low-set angulated ears with thickened helices. The nose has a beaked appearance, broad fleshy bridge, deviated septum that is long, protruding below the level of the nasal alae with an associated short columella. Since the typical facial phenotype may not be obvious until late childhood, I have evaluated more than 40 cases of Rubinstein-Taybi syndrome, seen at varying ages from the newborn period through infancy, childhood, and adulthood, in order to learn more about the early facial appearance.
鲁宾斯坦-泰比综合征是一种罕见的多发性先天性畸形（MCA）综合征，包括智力和生长发育迟缓、拇指和大脚趾粗大以及面容异常。其典型外观易于识别。包括睑裂向下倾斜、内眦赘皮、上睑下垂、斜视、高拱腭以及明显低位呈角状的耳朵且耳轮增厚。鼻子呈鹰嘴状外观，鼻梁宽阔多肉，鼻中隔偏斜且长，突出于鼻翼水平以下并伴有短鼻小柱。由于典型的面部表型直到儿童晚期才可能明显，我评估了40多例鲁宾斯坦-泰比综合征病例，这些病例年龄各异，从新生儿期到婴儿期、儿童期和成年期，以便更多地了解早期面部外观。
