The Author sets out his standpoint on the value concerning the « forme fruste » of syndromes of multiple malformations expecially of those which have hereditary nature. He remembers the four types of « mandibulo - facial dysostosis ». The Author describes a family in which the different members were affected by this illness in incomplete form. In the last generation by two parents having the « forma frusta », two children were born, affected by a complete Mandibulo - facial Dysostosis both after having lived two or three months. After a close examination of medical literature referring the familiar forms, man examine all the genetical eventuality concerning the examined family. Man can reach to a conclusion that the appearence of two brothers with a complete forme, precociously dead, is quite surely imputable to « homozygotism » and consequently to double close of « pathological genes ».

HCS, HCG, and HCG α and β subunits were measured in the serum of women with unifetal or multiple pregnancies. Highly specific radioimmunoassay procedures were used for the determinations.

Serum maternal levels of HCS are greatly increased in multiple pregnancies, sometimes more than could be expected from increased placental weight alone. Serum undissociated HCG is also elevated in multiple pregnancies. The relationship between undissociated HCG and its free circulating α and β subunits is different in multiple and unifetal pregnancies and this difference is discussed.

The authors studied the structure of the umbilical cord in a cephalothoracopagus and a holoacardius amorphus. In both cases they met with the absence of one umbilical artery. They discuss on the possible teratogenic influence of this umbilical anomaly, which appears in the acardius as a regular phenomenon, and, along with the velamentous insertion and with the vascular anastomoses bringing about the reverse blood circulation, constitutes the main cause of malformation.

Of 200 students from Southern Sweden 32 per cent were non-tasters for phenyl-thio-urea.

The dermatoglyphics of 100 mongol patients from Switzerland were investigated. The results are as follows:

1. Worls and arches are more scarce than in normal persons of the European races: 23.7% whorls, 1.0%. arches.

2. The very numerous loops (75.3% are frequently steep and narrow, the ridges tender or dissolved into pearls. Strong ridges often seem to be dismembered.

3. The ridges of the hands in the distal region want of swing and appear tightly stretched. The main line index (Cummins) reaches 10.15, the highest value so far found.

4. The patterns in the balls of the hands are much more numerous than in normal Europeans. The hypothenar pattern is sometimes extremely extended.

5. The axial triradius t”, rare in normal persons, is manifested in 80.0%.

6. The three and five-finger furrows are in nearly 60.0% changed and form more or less clear a four-finger or ape-furrow.

7. In spite of the distinctness of these characters it is not advisable to found the diagnosis of mongolism on them alone; clinical characters are necessary at all events.

6 pictures represent the various forms.

Further advances in research into the etiology of schizophrenia will depend on the identification of an unambigous indicator of the genotype associated with the development of schizophrenia. Such an indicator would permit accurate assessment of the relatives of probands as “affected” or not, so that the data generated in twin and family studies could be tested for the best fit to various genetic models that have been proposed. Schizoidia or schizoid personality has been considered by clinicians to be such an indicator, but it has been beset by semantic and logical difficulties. Most troublesome has been the extent to which the concept implies (merely) a phenotypic resemblance to schizophrenia, or a genotypie connection with it, or both. Four different but overlapping meanings for the concept of schizoidia are presented, in an effort to clarify the semantic and logic involved. Following Popper's notions about the testability and refutability of theories, the authors, identified with both monogenic and polygenic theories, apply the definitions to their first-hand observations of the cotwins in the Maudsley-Bethlem Schizophrenic Twin Study. Pushing the concept to its limit, 91 % of 22 MZ pairs and 45% of 33 DZ pairs contained “disordered” cotwins.

A case of MZ twins, both affected by Wolf's syndrome, is described. Their mother, of subnormal look and low intellectual level is translocated. The children, born with a weight and size much below the average, show a very special morphotype: a hook-nose, an abnormal conformation of the back edge of the nostrils (a protrusion in the shape of a horn overhanging the filtrum), hypertelorism, microcephaly. Great asynchronism in the maturation of the bones and a somatoschisis of the body of the cervical vertebrae are noted. Deletion of the short arm chromosome 4 is juxtacentromeric. The study of blood and tissue groups corroborates monozygosity. Dermatoglyphs are little abnormal and identical in the two children. The mother's family is phenotypically normal. At 19 months of age, measuring is still below 4, psychomotor progress is extremely weak, and convulsions are frequent.

In order to examine the genetic variance and heritability of temperament among Chinese infants in Taiwan, a total of 62 pairs of same-sexed twin infants given birth in four major general teaching hospitals in Taipei City were studied. Based on placentation and 12 red blood cell antigens, 44 MZ and 18 DZ pairs were identified. Temperament was assessed at the age of six months by the Chinese edition of Carey's Temperament scale. Significant genetic variance was observed for activity level, approach or withdrawal, intensity of reaction, quality of mood, and threshold of responsiveness, with a heritability of 0.64, 0.56, 0.74, 0.39, and 0.45, respectively. There was no significant intrapair difference in temperamental characteristics between monochorionic and dichorionic MZ twins.

This study describes the evolution in fetal and neonatal mortality rates among twin pairs born in 22 hospitals located in the eastern regions of the province of Quebec in 1976-1978 (n = 776 pairs) and 1982-1985 (n = 712 pairs). It also assesses the contribution of maternal factors, obstetrical care and characteristics of twins in the variation of the risk of death over time. The fetal mortality rate did not improve from 1976-1978 (22.6 per 1000) to 1982-1985 (28.1 per 1000). However, the neonatal mortality rate declined from 44.7 to 34.7 per 1000 liveborn first twins and from 56.8 to 36.1 per 1000 liveborn second twins. For first twins as for second twins, birthweight-specific neonatal mortality rates decreased within birth weight categories under 2500 g. In the second period, 96.9% of twin pregnancies were detected before confinement compared to 59.6% in the earlier period. The proportion of twins delivered by obstetricians, the percentage of twin births occurring in ultraspecialized perinatal units and the frequency of caesarean sections increased markedly. The proportion of preterm births increased over time (34.5% vs 43.1%) whereas the percentage of low birthweight twins decreased but not significantly (54.3% 51.6%). In this study, changes in maternal age, parity, educational level, sex of pairs, qualification of the physician, and level of care available at the hospital of birth, did not account for the decrease in neonatal mortality rates among twins. The increase in the frequency of caesarean sections seemed to explain only a small proportion of the decrease in the neonatal mortality rate among second twins. In the second as well as in the first period, the neonatal mortality rate for twins was six times higher than that for singletons.

Problems of ascertainment bedevil the investigation of the etiology of congenital anomalies in singletons and in multiple births by epidemiological methods. It is shown that the definition of the population of affected births is ambiguous and that the problem of tracing etiology is complicated by the systematic way in which anomalies may be missed at birth. The available methods of dealing with problems of ascertainment are reviewed. Methods of adjusting for possible bias of ascertainment of affected births, by fitting statistical models to data from several sources, have been employed in some previous studies. In these methods, it is assumed that there are no errors of diagnosis or of recording. However, it is shown that there may be discrepancies in recorded diagnoses between sources, rendering this assumption untenable. In these methods, it is also assumed that the model which is the best fit to the data on the ascertained cases in also the best model for the cases which were not ascertained. This assumption is tested indirectly in a retrospective analysis of data from Aberdeen and Belfast collected concurrently through routine recording systems. It is demonstrated that there was a social process in ascertainment which renders the methods of adjusting for bias of ascertainment at best very complicated and at worst inapplicable.

Infants from 22 pairs of appropriate-for-gestational-age/small-for-gestational-age (AGA/SGA) same-sex twins were assessed for temperament stability between the neonatal period and 30 months of age. The evaluation of neonatal temperament included observers' ratings of irritability, resistance to soothing, activity level while awake, activity level during sleep, reactivity, and reinforcement value. At 6, 9, 12, 18, 24, and 30 months mothers rated their infants' temperament on standardized questionnaires which yielded nine temperament categories: activity level, rhythmicity, approach or withdrawal, adaptability, intensity of reaction, quality of mood, attention span, distractibility, and threshold of responsiveness. The Bayley Scales of Infant Development were administered at 6, 9, 12, 18, 24, and 30 months to assess mental development. The results of longitudinal correlational analyses indicated that, for the AGA infants, there was a pattern of significant predictive relations between the neonatal ratings of temperament and maternal ratings of temperament at 6, 9, 12, 18, 24, and 30 months. The SGA infants did not demonstrate similar behavioral stability from the lying-in period up to 30 months of age. Furthermore, for AGA infants there was a consistent trend for both reactivity and neonatal activity during sleep to predict mental development scores between 6 and 30 months. A similar pattern was not observed for the SGA cotwins. The results indicated that temperament stability is an additional area of risk for SGA twins, and that the developmental function of the underlying processes in the neonatal measures is different for AGA and SGA infants.

A chronogenetic analysis of caries has been carried out in a sample of 100 twin pairs (27 MZ, 64 DZ, 9 UZ) aged 3-8 years, taking into account the number of decayed teeth and the intensity and severity of caries. Heritability estimates, calculated for each of the various parameters considered, support the hypothesis of a genetic control of the time of onset of caries.

The « Individuelle Musterwert » is stated 1951 by Brodhage-Wendt. This cipher can easily be computed from the ten fingerprints of a person.

In 100 monozygotic and 100 dizygotic twins and in 348 couples of parents with 991 children is demonstrated, that this cipher is a qualified measure to indicate the heredity of fingerprints. Furthemore the applicability of the « Individuelle Musterwert » in twindiagnosis and paternity tests is shown.

The Authors analyze the phenomenon whereby, in progressing from generation to generation, a hereditary disease may appear at an earlier, equal or later age (anticipation, repetition or posticipation, respectively). They believe that this represents the phenotypic effect of a temporal dimension of the gene, the “chronon”, which may reveal stability, plus-variance or minus-variance according to the standard genetic models. This interpretation provides an explanation of two family cases of diabetes mellitus, respectively exhibiting anticipation and posticipation, and repetition.

With the revision of application of terms “endogamous” and “exogamous” the inbreeding levels have been calculated from certain parts of Madhya Pradesh. Higher inbreeding levels in persons with rural background are in conformity with other workers.

Doppler arterial velocimetry waveforms was used as a method of antenatal surveillance for triplets. Six sets of triplet pregnancies were studied. Each fetus was identified by real-time-ultrasound scanning and the peak systolic/end diastolic (S/D) ratio was calculated. In one set of triplets two fetuses showed absent end diastolic flow. Both subsequently suffered from necrotising enterocolitis and had major bowel resection. The five other sets of triplets maintained a normal S/D ratio. Three had a normal outcome and two delivered prematurely.

Two unrelated patients with trisomy 2q32 → q37, resulting from maternal balanced translocations t(2; 13) (q32 q33) and t(2; 15) (q32 q26) are reported. Comparison of the clinical findings suggests that trisomy 2q is associated with a rather characteristic constellation of symptoms and malformations.

There were 150 deliveries of twin pregnancies over 26 weeks in our hospital. The incidence of twin pregnancies was 1.0% in a population consisting of Greek nationals. Seventy five (50%) were term at delivery whereas 75 (50%) were premature (mean gestational age at delivery 36.5 weeks). The birth weight at delivery ranged from 350 grs to 4,050 grs with mean birth weight for the 1st and 2nd twin of 2,404 grs and 2,384 grs, respectively. One hundred and forty four (48%) neonates had weights between 1,501 to 2,500 grs. Twenty two (9.57%) neonates had weights between 1,501 grs to 2,500 grs. The perinatal mortality when birth weights exceeded 1,500 grs was 7.32%. In total, 186 (62%) newborns were delivered vaginally and 114 (38%) by cesarean section. Forceps were used in 4.33% of the cases and breech extraction was performed in 2.33%. The mode of delivery and perinatal mortality rates were not correlated for both twins (p>0.05). The most common causes of death were hyaline membrane disease (48.5%), immaturity (18.2%), congenital abnormalities (15.1%), septicemia (12.1%) and asphyxia (6.06%). Prematurity seems to constitute the most common cause of perinatal deaths while the mode of delivery found to be irrelevant to perinatal mortality.

In an earlier study (Wilde, 1964) on 88 MZ and 42 DZ twin pairs in Holland, DZ pairs, who had been separated for a minimum of five years, were compared with DZ twins living together on measures of neuroticism, extraversion, test-taking attitude and masculinity/femininity. The striking observation was made that separated DZ twins were systematically more similar than DZ twins living together across all personality traits concerned. No such difference was found between MZ pairs living together and MZ pairs living separately. In order to account for these findings, the hypothesis was put forward that the persons in the direct environment of a twin pair have certain behavioural expectancies with regard to the twin members, which depend upon the observation whether the twins are MZ or DZ. As soon as the twin pairs leave the parental home these behavioural expectancies come to a halt and the “true personalities” of the twins will emerge. This might explain why DZ pairs were found to be more similar after separation, and this reasoning also shows that it is inadequate to say that “the environment is the same” or “the environment is different”, without specifying which environmental variable is the same and which one is not. In some respects the environments of separated DZ pairs may have been more similar than the environments of DZ pairs living together.

1. A tapeto-retinal degeneration can be observed in association with a disturbance in the metabolism of the lipids.

2. This fact gives a new argument in favor of the hypothesis that the tapeto-retinal degeneration is due to a metabolic alteration and more probably to an enzymatic disturbance in the sensorial epithelium of the retina.

3. The investigations of Hooft et al (1962) demonstrate that it may be an insufficiency of the pyridine nucleotide coenzymes following a primary disturbance in the metabolism of tryptophane.

4. In a case of pigmentary retinopathy, it is now indispensable to do a systematic blood examination both on the morphological and on the biochemical and metabolic point of view.