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The ocular features of eight cases of arhinencephaly have been described. Prediction of the degree of brain involvement from the eye defects could not be made, but eye abnormalities were present in all cases. The relationship of these syndromes to chromosomal abnormalities is emphasized. In the less severe cases treatable endocrine dysgenesis must be excluded. [ABSTRACT FROM PUBLISHER]

Successful fetoscopy using a 9 mm laparoscope was carried out on an 18-week pregnancy of a healthy woman who had had two previous male infants with bilateral double big toes, bilateral ulnar supernumerary digits associated with short segment Hirschsprung's disease, and ventricular septal defect of the heart, a syndrome apparently not previously described. The fetus was found to be normal, but an amniotic membrane defect was detected, which accounted for amniotic fluid leakage from 24 weeks up to delivery by caesaren section of a normal male infant at 35 weeks. The possible genetic basis and recurrence risk, put at probably one in four for this syndrome, is discussed. The indications for fetoscopy are set out and a fundal approach at laparotomy after placental localization is recommended for the procedure. [ABSTRACT FROM PUBLISHER]

Normal male development was found in a man with a proven deletion of the long arms of the Y chromosome. The only phenotypic effect was on his build. This study offers additional proof that all, or most of the long arms of the Y chromosome are not primarily concerned with the determination of male sexual characteristics. [ABSTRACT FROM PUBLISHER]

A pregnancy at risk for the Sanfilippo syndrome has been studied in which clear evidence was obtained from the study of amniotic fluid and fetal organs that the fetus was affected. Increased levels of heparan sulphate were found in amniotic fluid and fetal liver, while electronmicroscopy of cultured fetal fibroblasts and fetal liver showed abnormal cytoplasmic inclusions. SO uptake studies of cultured fetal cells showed abnormal intracellular accumulation of mucopoly saccharide, while both cultured amniotic cells and fetal skin fibroblasts demonstrated deficiency of heparin sulphamidase, the enzyme responsible for the `A' subtype of the disease. It is suggested that by use of a combination of these methods Sanfilippo A disease can now be diagnosed reliably [ABSTRACT FROM PUBLISHER]

The article discusses the significance of preventing neural tube defects (NTD). It is stated that NTD are considered one of the most common serious malformations in the British Isles, which a major cause of stillbirth and infant death. Thus, several clinical aspects and treatment policies and prenatal diagnosis after amniocentesis are presented. They also include population screening for NTD and primary prevention improvement of maternal diet and vitamin supplementation.

The concentration of 170H-progesterone was measured in amniotic fluid samples collected from 55 mothers who had previously had a child with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In eight pregnancies the levels of 170H-progesterone were raised; the parents elected to terminate in four and examinations of the fetus confirmed the diagnosis of congenital adrenal hyperplasia. In each case, the affected sib was a salt loser. The remaining four affected pregnancies proceeded to term and each infant had salt losing 21-hydroxylase deficiency. All 47 infants predicted to be unaffected were normal at birth. However, an increased plasma concentration of 170H-progesterone was documented in a male non-salt loser at three months of age. Prenatal diagnosis of congenital adrenal hyperplasia by amniotic fluid steroid analysis is reliable only for the salt losing variant of 21-hydroxylase deficiency. Of the affected sibs in this study, 20% died during infancy in a salt losing crisis. This simple and rapid prenatal test is sufficiently reliable to predict the group of infants most at risk in early infancy. [ABSTRACT FROM PUBLISHER]

As part of an investigation into the practical problems of a maternal serum alphafetoprotein (AFP) neural tube defect (NTD) screening programme carried out in Mid Glamorgan, South Wales, between 1977 and 1979, obstetricians were recommended to refer women with high risk pregnancies directly for counselling, high resolution ultrasonography, and amniocentesis without first carrying out serum screening. Out of 15 687 pregnant women one-third attended too late to be screened. A total of 637 was classed as high risk, mostly at greater risk than 1 in 50 because of a previously affected pregnancy or an affected close relative. Compliance with recommended procedure was relatively low as many were screened. There were 10 pregnancies with a recurrence of NTD, of which one was not tested at all, two were not detected (one closed meningocele and one closed iniencephalic), and seven were detected and the pregnancies terminated. All the latter, as well as the iniencephalic, would have been detected from a serum AFP determination and a high resolution ultrasound scan alone. It is concluded that these investigations are sufficient for high risk pregnancies and that amniocentesis is not really cost effective or necessary unless either of these investigations is abnormal. As numbers in this study were small it is suggested that these conclusions should be tested in a larger study. [ABSTRACT FROM PUBLISHER]

Three new cases of oculodentodigital (ODD) syndrome are reported. The clinical features are discussed and the development of the characteristic facial appearance is illustrated. Conductive deafness is reported in one of our cases and has been reported in six previous cases. It is suggested that it is a feature of the syndrome which is amenable to treatment. [ABSTRACT FROM PUBLISHER]

A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter. [ABSTRACT FROM PUBLISHER]

The matrimonial stability of 142 families where a child with neural tube malformation (mostly spina bifida) was born between 1964 and 1966, including 56 families with a surviving spina bifida child, was examined in January 1976. The divorce rate for families with a surviving child was found to be nine times higher than that for the local population and three times higher than for families experiencing bereavement of their spina bifida child. Marriages which followed a pre-nuptial conception resulting in a spina bifida child were particularly vulnerable and had a divorce or separation risk of 50 per cent. All the divorced fathers had remarried, but only one of the mothers. It is concluded that a handicapped child adds greatly to the strain on a marriage, especially when this has not been cemented before the arrival of a child. This strain is diminished by the child's early death. [ABSTRACT FROM AUTHOR]

. , , 709-715. . Normal values are reported for the lung volumes, ventilatory capacity, and transfer factor of 212 healthy British twin children aged 8 to 16 years. The boys and the girls share a common relationship to height for the residual volume, peak expiratory flow rate, and co (transfer factor per litre of lung volume). For the inspiratory capacity and the transfer factor, also its membrane component (m), the values for the boys exceed those for the girls by, on average, 10%. This difference may be due, at least in part, to the boys taking more exercise. [ABSTRACT FROM PUBLISHER]