CONGENITAL ANOM MICROCEPHALY WITH HIATUS HERNIA AND NEPHROTIC SYNDROME IN 2 SIBS
CONGENITAL ANOM MICROCEPHALY WITH HIATUS HERNIA AND NEPHROTIC SYNDROME IN 2 SIBS
复制标题
DOI：
10.1136/jmg.5.4.319
复制
发表时间：
1968-01-01
影响因子：
4
通讯作者：
MOWAT A P
中科院分区：
文献类型：
--
作者：
GALLOWAY W H;MOWAT A P
案例1。他们的第一个孩子是一个男孩，1956年10月出生，当时父亲23岁，母亲21岁。怀孕和分娩并不复杂，尽管母亲在怀孕后期因怀疑骨盆比例失调而进行了骨盆x光检查。这孩子出生时重3015克。（6磅10盎司），并没有表现出早产的特征，尽管声明怀孕34周。antedatedmarriage概念。胎盘重630克。（1磅6盎司）。在生命的第一周，婴儿出现脓尿和蛋白尿腹泻。磺胺治疗一周，这些症状消失。从出生第二周开始出现频繁呕吐。3个月大时，影像学显示大裂孔疝。当时的头围是35厘米。他9个月大的时候因为拒绝进食而住进了医院。这个孩子对周围的环境几乎没有兴趣，几乎无法控制头部，也不能坐起来。主要异常表现为小头畸形（头围38 cm）、运动发育不良、全身性张力低下、无目的运动。头骨形状奇特，前额向后缩，从耳朵上方突出的隆起处，侧边向一个平坦的顶点倾斜。放射学检查显示有一定程度的斜视。有点蚀依赖性尿需求和大量蛋白尿。血清胆固醇220 mg，血清蛋白白蛋白和y-球蛋白降低，a2-球蛋白升高。没有
Case 1. Their first child, a boy, was born on October 1956, the father then being 23 years old, the mother 21 years old. Pregnancy and delivery were un-complicated though the mother had had an x-ray of the pelvis for suspected disproportion in late pregnancy. At birth the child weighed 3015 g.(6 lb. 10 oz.) and showed no features of prematurity, in spite of a stated gestation of 34 weeks. Conception antedatedmarriage. The placenta weighed 630 g.(1 lb. 6 oz.). In the first week of life, the infant developed diarrhoea with pyuria and proteinuria. Sulphadimidine was prescribed for one week and these features settled. Frequent vomiting occurred from the second week of life. At 3 months of age a large hiatus hernia was shown radiologically. The head circumference at that time was 35 cm. He was admitted to hospital at 9 months because of refusal to feed. The child had shown little interest in his surroundings, had little head control, and couldnot sit up. The main abnormal findings then were micro-cephaly (head circumference 38 cm.) and poor motor development, withgeneralized hypotonia and no purposeful movements. The skull was peculiarly shaped, the forehead was receding, and from prominent ridges above the ears the lateral aspects sloped towards a flat vertex. Radiological examination showed a degree of platybasia. There was pitting dependent oedemaand massive proteinuria. The serum cholesterol was 220 mg., the serum proteins showing diminished albumin and y-globulin with raised a2-globulins. There was no