超声对产前先天性心脏畸形筛查的价值

目的评价四腔心和流出道切面在胎儿先天性心脏畸形筛查中的价值。方法1500例胎儿用心脏四腔切面筛查的方法进行检测，以引产后尸解或出生后作为对照标准。结果1500例胎儿，终止妊娠胎儿尸解和出生后证实有先天性心脏病的15例（占1．0％），四腔心切面筛查有先天性心脏畸形13例（占0．87％），占终止妊娠胎儿尸解和出生后证实有先天性心脏病的86．8％，2例假阳性（占13．3％）。结论四腔心切面在产前超声筛查新生儿先天性心脏畸形方面具有重要的作用和临床意义。     

The international collaborative study of maternal phenylketonuria: status report 1994

Neonatal screening for phenylketonuria (PKU) has created a problem as females with PKU are reaching child-bearing age. Surveys have revealed that maternal phenylalanine blood concentrations greater than 1200 μmol/l are associated with fetal microcephaly, congenital heart defects and intrauterine growth retardation. It is estimated that as many as 3000 hyperphenylalaninemic females may be at risk of producing these fetal abnormalities. To examine this problem, the international maternal PKU collaborative study was developed to evaluate the efficacy of a phenylalanine-restricted diet in reducing fetal morbidity. Preliminary findings have indicated that phenylalanine restriction should begin before conception for females with PKU planning a pregnancy. Dietary control should maintain maternal blood phenylalanine levels between 120 and 360 μmol/l and should provide adequate energy, protein, vitamin and mineral intake. Pregnant hyperphenylalaninemic females who achieved metabolic control after conception or by the 10th week of pregnancy had a better offspring outcome than anticipated. The results of 402 pregnancies are reviewed.     

Distinctive autosomal or X-linked dominant syndrome of microcephaly,mild developmental delay,short stature,and distinctive face

We report on a mother and two sons with a syndrome of microcephaly, short stature, a distinctive face, broad thumbs and great toes, and mild developmental delay. There are similarities to the patients reported by Bawle and Horton [Am J Med Genet 33:382–384, 1989] and Evans [Clin Genet 39:178–180, 1991] but it is not certain whether the patients have the same condition. Inheritance could either be autosomal or X-linked dominant. © 1993 Wiley-Liss, Inc.     

Elevated 1,25-dihydroxyvitamin D and normocalcaemia in presumed familial Williams syndrome

Two brothers with Williams syndrome without hypercalcaemia are presented. One boy died during the first month of life. His brother also had the typical phenotypic features of the elfin facies. He developed severe microcephaly and cataract and died at the age of 9 years. The skeleton was osteosclerotic at birth, and became generally osteoporotic at the age of 2 years. He had persistently elevated 1,25-dihydroxyvitamin D levels during the first 2 years of life, in spite of normocalcaemia. At autopsy, microcalcifications were found in the brain and kidneys. The present report underscores the familial occurrence of Williams syndrome of severe degree. Elevated 1,25-dihydroxyvitamin D levels without hypercalcaemia have not been reported previously, and may suggest causal heterogeneity of the Williams syndrome.