Koenig Rainer
Institute of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany.
Clin Dysmorphol. 2003 Jul;12(3):187-9. doi: 10.1097/01.mcd.0000077563.66911.c4.
Teebi (1987) described an autosomal dominant syndrome with resemblance to craniofrontonasal dysplasia. Here we present a 2 year 5 month old girl with Teebi syndrome showing a prominent forehead, hypertelorism, mild exophthalmos, downslanting palpebral fissures, a depressed nasal bridge, a broad nasal tip, a long philtrum, natal teeth, a thin upper lip, an everted lower lip, a small chin, low-set ears, preauricular fistulas, a short neck, mild pectus excavatum, an umbilical hernia, clinodactyly of the 5th fingers with mild radial deviation of the distal phalanges of the middle fingers, mild pes adductus, an ectopic kidney, and normal psychomotor development. Her mother and her grandmother had similar features.
蒂比(1987年)描述了一种常染色体显性综合征,与颅额鼻发育异常相似。在此,我们报告一名2岁5个月大患有蒂比综合征的女孩,其表现为前额突出、眼距过宽、轻度眼球突出、睑裂向下倾斜、鼻梁凹陷、鼻尖宽阔、人中长、诞生牙、上唇薄、下唇外翻、小下巴、低位耳、耳前瘘管、短颈、轻度漏斗胸、脐疝、第5指屈曲内收畸形伴中指远端指骨轻度桡侧偏斜、轻度内收足、异位肾,且精神运动发育正常。她的母亲和祖母有相似的特征。