Elliott A M, Ludman M, Teebi A S
F. Clarke Fraser Clinical Genetics Unit, Montreal Children's Hospital, Quebec, Canada.
Am J Med Genet. 1996 Mar 1;62(1):23-5. doi: 10.1002/(SICI)1096-8628(19960301)62:1<23::AID-AJMG5>3.0.CO;2-X.
We describe a combination of multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs in a 4.5-year-old male. Craniofacial anomalies included: a high forehead, elongated face, bitemporal sparseness of hair, broad eyebrows, blepharophimosis, bilateral microphthalmia and microcornea, severe optic nerve hypoplasia, epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks, microstomia, cleft palate, enamel hypoplasia, micrognathia, microtia with stenotic ear canals and posteriorly angulated ears. Head circumference was on the 10th centile and a CT scan showed dilated lateral ventricles. Intracranial pressure was not increased. Other abnormalities included: short stature, loose skin, hypotonia, pectus excavatum, inguinal and umbilical hernias, severe scoliosis, hypoplastic scrotum, long fingers and overlapping toes. Echocardiography showed tricuspid regurgitation. Chromosomes were apparently normal. Differentiation from "Michelin tire baby syndrome" and amniotic band sequence is discussed.
我们描述了一名4.5岁男性患儿，其存在多种先天性畸形、严重精神运动发育迟缓以及手臂和腿部对称性环形皮肤褶皱。颅面畸形包括：高额、长脸、双侧颞部头发稀疏、宽眉、睑裂狭小、双侧小眼和小角膜、严重视神经发育不全、内眦赘皮、眼距增宽、宽鼻梁、脸颊肿胀、小口畸形、腭裂、牙釉质发育不全、小颌畸形、外耳道狭窄的小耳以及耳向后成角。头围位于第10百分位，CT扫描显示侧脑室扩张。颅内压未升高。其他异常包括：身材矮小、皮肤松弛、肌张力低下、漏斗胸、腹股沟疝和脐疝、严重脊柱侧弯、阴囊发育不全、手指长和脚趾重叠。超声心动图显示三尖瓣反流。染色体明显正常。文中讨论了与“米其林轮胎婴儿综合征”和羊膜带序列的鉴别。
