Fries M H, Kuller J A, Norton M E, Yankowitz J, Kobori J, Good W V, Ferriero D, Cox V, Donlin S S, Golabi M
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California at San Francisco.
Teratology. 1993 Nov;48(5):413-20. doi: 10.1002/tera.1420480505.
Thirty two infants referred for in-patient genetics evaluation at the University of California at San Francisco, 1987-1992, were found to have a history of maternal cocaine use. Genetics reports and medical records were reviewed on all these infants to identify features distinctive for cocaine exposure. Among these 32 cases, 14 infants were exposed only to cocaine; 18 were exposed to alcohol and cocaine. The infants evaluated displayed a distinctive phenotype, consisting of neurologic irritability, large fontanels, prominent glabella, marked periorbital and eyelid edema, low nasal bridge with transverse crease, short nose, lateral soft tissue nasal buildup, and small toenails. Features consistent with the fetal alcohol syndrome appeared distinct and coexistent with the other described facial findings. Other severe abnormalities included cleft lip/palate, atypical facial cleft, abnormal BSER, intraventricular hemorrhages, arthrogryposes, and genitourinary abnormalities. Forty percent of the infants were born prematurely; 28% were small for gestational age; 43% showed head circumference values less than the 10th percentile. We conclude that these findings may be distinctive for a diagnosis of fetal cocaine syndrome; such findings should be further established by a future blinded prospective study of mothers and neonates.
1987年至1992年期间，在加利福尼亚大学旧金山分校接受住院遗传学评估的32名婴儿被发现有母亲使用可卡因的病史。对所有这些婴儿的遗传学报告和病历进行了审查，以确定可卡因暴露的独特特征。在这32例病例中，14名婴儿仅接触过可卡因；18名婴儿同时接触过酒精和可卡因。接受评估的婴儿表现出一种独特的表型，包括神经易激惹、囟门大、眉间突出、眶周和眼睑明显水肿、鼻梁低并伴有横向皱纹、鼻子短、鼻侧软组织增厚以及脚趾甲小。与胎儿酒精综合征一致的特征显得明显，并与其他所描述的面部特征并存。其他严重异常包括唇腭裂、非典型面部裂、异常脑干听觉诱发电位、脑室内出血、关节挛缩和泌尿生殖系统异常。40%的婴儿早产；28%的婴儿小于胎龄；43%的婴儿头围值低于第10百分位。我们得出结论，这些发现可能是胎儿可卡因综合征诊断的独特依据；这些发现应通过未来对母亲和新生儿的盲法前瞻性研究进一步确定。
