Amniotic band disruption syndrome associated with elevated amniotic AFP and normal acetylcholinesterase gel test.

Ultrasonography in an 18 week pregnancy selected for detailed scanning because of a single elevated maternal serum AFP result suggested the presence of anencephaly. Amniocentesis at 19 weeks yielded a clear AF with an elevated AFP result (5.4 MOM) and no evidence of an acetylcholinesterase band of neural origin on PAG electrophoresis. At termination, the fetus had cephalo-amniotic fusion and multiple abnormalities including bilateral cleft lip and palate and digital amputations characteristic of the amniotic band syndrome. The cranial defect was completely sealed by attachment of the amniotic surface of the placenta to the skull.

Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.

Two siblings, one a male pseudohermaphrodite and the other female, died on the first day of life. In both instances pregnancy was complicated by polyhydramnios. At autopsy each was found to have multiple abnormalities, some concordant, others discordant. The concordant ones were hypoplastic left-heart complex, absent pulmonary lobation, polydactyly, bilateral talipes, and, on microscopic examination, some large atypical cells in the pancreatic islets. Chromosome cultures failed to grow. As far as is known parents were unrelated. Autosomal recessive inheritance is considered a possible cause, and the infants are thought to have the most severe form of the so-called Smith-Lemli-Opitz (RSH) Syndrome.

Low thymic weight in small-for-dates babies.

The thymic weights of 20 growth-retarded babies dying at or about birth were found to be less than normal for their birth weights. It is suggested that small-for-dates babies that survive may be immunodeficient as are children who suffer from extrauterine malnutrition.

Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs.

A Pakistani couple, who were first cousins once removed through their fathers, and whose mothers were also related, had two liveborn children, a boy and a girl. Both children died within 2 hours of birth with occipital encephalocele, microcephaly, polycystic kidneys, and cystic distension of intrahepatic bile ducts. Both children had normal karyotypes. These abnormalities constitute Meckel's syndrome (dysencephalia splanchno-cystica); this is the fifth report of parental consanguinity, adding further support to the evidence for autosomal recessive inheritance of the disorder.

Premature closure of the ductus arteriosus (P.C.D.A.): a possible cause of intrauterine circulatory failure.

In the course of some 800 perinatal necropsies (corresponding to approximately 26,000 deliveries), 3 stillborn infants were found to have an almost completely closed ductus arteriosus. Each of these showed cardiomegaly, dilatation of right-side chambers, pulmonary hyperaemia and oedema of varying degree and extent; intrauterine death was considered to be due to P.C.D.A. In several further cases the ductus was also narrowed but not necessarily responsible for intrauterine death. This frequency suggests that P.C.D.A. is more common than might be surmised from very scanty documentation in the literature. Possible aetiological factors of P.C.D.A. as well as its effects on the circulation are briefly discussed.

Chorionic haemangiomata and abruptio placentae. Case report and review.

A case of fetal death from abruptio placentae is reported in which the placenta was the seat of multiple chorangiomata. This association is believed not to have been fortuitous and a possible mechanism is suggested by which chorangioma may contribute to the pathogenesis of placental abruption. The incidence, morphological variation and clinical manifestations of placental chorangiomata are briefly discussed.

Extra-amniotic pregnancy. A case report.

A case of extra-amniotic pregnancy ending in premature labour at 35 weeks is reported.

The missing umbilical artery. II. Paediatric follow-up.

Bryan, E. M., and Kohler, H. G. (1975). Archives of Disease in Childhood, 50, 714. The missing umbilical artery. II. Paediatric follow-up. Of 143 infants with single umbilical artery detected by routine examination of the placenta, 25 had major malformations at birth; 3 of these survive. Another 6 were stillborn and 2 died during the first year of life. At follow-up 14 children could not be traced. 18 were assessed on the basis of reports by family doctors or parents ('report group'); 14 of these were considered normal. The remaining 78 infants and children were given a clinical examination ('examination group'); 64 were found to be normal. Malformations found in 10 children (6 from the examination group and 4 from the report group) are discussed. Most of the abnormalities detected were less severe and less conspicuous than those revealed at birth, and in a few instances only might have been diagnosed by a more thorough examination in the perinatal period. Failure to detect these 'less severe and less conspicuous' malformations is generally unlikely to be detrimental to the infant, with the exception of urinary tract anomalies which are known to predispose to infection. Included in the examination group were 16 children (out of an original 22) who had been 'normal' but small-for-dates at birth; 14 of these had now caught up. The remaining 2 were found to have abnormalities that had not been manifest at birth. The finding of single umbilical artery at birth commits the paediatrician to an intensive search for malformations which are not immediately apparent, but prolonged surveillance for this reason alone is not advocated.