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首页> 外文期刊>The Journal of dermatology >Adams-Oliver syndrome: a case with complete expression.
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Adams-Oliver syndrome: a case with complete expression.

机译：亚当斯-奥利弗综合征：一个完整​​表达的病例。

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A female neonate was born out of the first pregnancy of a healthy, non-consanguineous, Hindu Indian couple, mother and father aged 20 and 30 years, respectively. There was no maternal history of medications, radiation exposure, alcohol or drug abuse. At 39 weeks gestation, this baby weighing 2250 g (below 10th centile) was delivered by emergency cesarean section performed for fetal distress. A general inspection at birth revealed central cyanosis and generalized reticulate dilated cutaneous vascu-lature (cutis marmorata telangiectatica congenita [CMTC]). The right lower limb was absent below the mid-calf and the left above the level of the ankles. Both palms were short and broad with a single palmar crease. Apart from the thumbs, there was variable shortening of the fingers bilaterally. The shortening of the fingers was more marked on the right side (Fig. 1). All the affected fingers had hypoplastic nails. The head circumference was 31 cm (below fifth centile). A hairless, ulcerated, cutaneous defect (aplasia cutis) was present over the occipito-parietal region of the scalp. It measured 9 cm x 7 cm, and had well-defined irregular margins. There was minimal serosanguinous discharge from the lesion, which subsided after 2 days of life. Dilated veins were present in the vicinity of the cutaneous defect. The umbilical cord had three vessels and the subject's eyes, ears, nose, lips, palate, chest, spine, abdomen, genitalia and proximal limbs were normal in appearance.
机译：一名女性新生儿是在一对健康，非近亲，印度裔印度夫妇，母亲和父亲分别为20岁和30岁的第一次怀孕后出生的。没有母亲的药物治疗史，放射线暴露，酒精或药物滥用史。妊娠39周时，这名体重2250 g（低于10％）的婴儿通过紧急剖宫产进行分娩以应对胎儿窘迫。出生时进行的常规检查发现中心发和广泛的网状扩张的皮肤血管（先天性皮肤角质层[CMTC]）。小腿中间下方不存在右下肢，而脚踝水平上方则不存在左下肢。两手掌短而宽，只有一个手掌折痕。除拇指外，双侧手指均有不同程度的缩短。手指的缩短在右侧更为明显（图1）。所有受影响的手指指甲均发育不良。头围为31厘米（低于五分位数）。在头皮的枕骨顶区域存在无毛，溃疡的皮肤缺损（角膜无毛）。它的尺寸为9厘米x 7厘米，并具有明确的不规则边缘。病变处几乎没有血清流血性分泌物，在生命2天后消失。皮肤缺损附近存在扩张的静脉。脐带有三个血管，对象的眼睛，耳朵，鼻子，嘴唇，上颚，胸部，脊柱，腹部，生殖器和四肢近端均正常。

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