Pfeiffer-Palm-Teller综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature, small hands and feet, stiff gait, slow movements, high-pitched voice and progressive joint stiffness, particularly in the shoulders, elbows, fingers and hands. Patients typically present with amimic facies with narrow palpebral fissures with epicanthal folds, cup-shaped ears, high-arched palate and enamel hypoplasia. Recurrent bronchitis is frequently observed. Inguinal hernia, clinodactyly and congenital aortic stenosis may also be present. There have been no further descriptions in the literature since 1977.

基本事实

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 9

外部标识与链接