A review of the literature on twin studies in craniofacial genetics is presented. The following areas are particularly dealt with: tooth form and size, tooth formation and eruption, dental arch and occlusion, facial form and size, and cleft lip and palate.

The predictive relationship between neonatal behavior and temperament at 6 months was assessed in 62 pairs of twins. The neonatal assessment evaluated irritability, resistance to soothing, reactivity, and activity level across various activities. Temperament at 6 months was appraised by a laboratory assessment, ratings on the Infant Behavior Record, and a questionnaire completed by the mother. Examination for temperament consistency from the neonatal period to 6 months indicated that (a) neonates rated by an examiner as irritable and difficult to soothe were reported by the mother to be more negative, irritable, and slower to adapt at 6 months; (b) neonates rated as more irritable and active were more attentive and responsive during mental testing at 6 months; (c) there was no relationship between the neonatal measures and the laboratory ratings, possibly reflecting methodological problems influenced by maturation and vegetative processes at 6 months. Analyses for patterns of concordance within the various data sets for MZ and DZ twins indicated that there was no pattern of differential concordance favoring MZ twins for the temperament measures at birth or at 6 months. It was concluded that a modest predictive relationship between temperament variables had been demonstrated from birth to 6 months, but no specific genetic effects were detected at these early ages.

For 98 pairs of MZ twins, four measures indicating degree of cotwin closeness were correlated with absolute differences between IQ scores within pairs. In two different twin samples (40 MZ vs 40 DZ pairs and 169 MZ vs 174 DZ pairs, respectively), means and standard deviations in the closeness variables were obtained for MZ and DZ pairs. Whereas MZ cotwins were clearly closer than DZ cotwins, the relation between cotwin closeness and similarity in IQ seemed rather weak and ambiguous. “Years lived together in childhood home” were positively related to similarity in IQ (P < 0.01), whereas subjective feeling of closeness in contact tended to be negatively related to similarity in IQ.

In order to study the influence of heredity on resting metabolic rate (RMR), 20 monozygotic and 19 dizygotic male twin pairs aged 20.6 (SD 2.9) and 21.4 (SD 3.1) years, gave their consent to participate in the experiment. Fat free weight (FFW) was estimated from underwater weighing. RMR was measured by indirect calorimetry using an open circuit system. RMR was expressed as kJ · min−1, kJ/m2 · h−1, kJ/kg · h−1 and kJ/kgFFW · h−1. Significant intraclass coefficients were observed in MZ twins for the different expressions of RMR. The values ranged from r = 0.45 (P < 0.05) to r = 0.81 (P < 0.01). However, DZ twins demonstrated lower intraclass coefficients for RMR, with a range from r = 0.21 to r = 0.44. Significant (P < 0.05) DZ resemblance was revealed only when RMR was expressed as kJ · min−1 and kJ/kg · h−1. Results of the present study suggest that variations in RMR may have a genetic component. Implications for human energy balance and body fat are discussed.

From 1971 to 1981, 16752 women were delivered at the University Women's Clinic in Heidelberg; 228 of these were twin pregnancies (1.36%). The relationships between sex, gestational age, birthweight, mortality, and fetal outcome were investigated. For the reason of grading, so-called χ2 curves are used. These curves show the strength and the course of relationship between two parameters. Mortality of the twin (8.3%) depended on birthweight and on sex of the infant, but not on the mode of delivery. All twins were ‘small-for-date’ (25th weight percentile of single births). Starting at the 35th week of gestation, the increase in weight decelerated additionally. So, immaturity as well as twin-related factors led to the high mortality rate for twins. Fetal outcome was evaluated in respect to the birthweight and to the delivery interval.

Reference intervals for human placental lactogen (hPL) and dU-estrogens (dU-E) in uncomplicated twin pregnancies are found to be higher than singleton pregnancies and considerably wider. Significantly more monozygotic than dizygotic pregnancies, and significantly more monoplacental than diplacental pregnancies showed hPL values below the median on the normal range curve. The same was not found for dU-E. Significantly more growth-retarded fetuses were found in monoplacental than diplacental pregnancies. The benefit of measuring the two parameters in order to identify the intrauterine growth retarded fetuses were evaluated in terms of sensitivity and specificity. Both parameters were found less suitable for the purpose.

A total of 146 twin pregnancies were studied to evaluate the importance of bed rest. A significantly reduced frequency of preterm delivery was found after bed rest in hospital as compared to bed rest at home or no bed rest at all. An increase in gestational age and in birth weight was seen after bed rest. No effect was found on the intrauterine increase of fetal weight per time. Early routine ultrasound is recommended, so that effective bed rest may be instituted in due time.

Factors presumed to influence intrauterine growth were analyzed among 192 twin pairs. Mean birthweight was considerably reduced compared to single pregnancies, and a high proportion of twins were growth retarded (12.4%). One fifth of the twin pairs presented an intrapair birthweight difference exceeding 20%. DZ twins were sligthly heavier than the MZ, while dichorionic twins had a somewhat higher birthweight than the monochorionic. The intrapair weight differences were greater in twins with fused dichorionic placentae than in those with separate ones. The umbilical cord insertion seemed to influence intrauterine growth. Fetuses with velamentously or marginally inserted cords presented more frequently retarded growth than twins with centrally inserted umbilical cords. Though a total of 13 cases of twin transfusion syndromes were observed, these were not characterized by great intrapair weight differences.

Triplet pregnancy of over 20 weeks gestation occurred 20 times during 75,506 deliveries at a referral hospital. Commonly occurring maternal complications included premature delivery (75%), antepartum anemia (35%), postpartum hemorrhage (35%), preeclampsia (20%), and premature spontaneous rupture of the membranes (20%). Malpresentation was common. Neonatal complications were also common and included respiratory distress syndrome (45%), presumptive sepsis (36.6%), hyperbilirubinemia (33%), and neonatal death (21.6%). These high complication rates emphasize the importance of early identification and referral center care for these vulnerable pregnancies.

The authors describe a pair of twins, one of whom showed acardia while the other had severe neural tube defect including anencephaly. This is the first observation of a fetal malformation (anencephaly) in the cotwin of an acardius and confirms the fact that even the cotwin of an acardiac fetus may be at risk of severe congenital malformations.

Three pairs of monozygotic twins were ascertained during a general survey of language disabilities conducted among schoolchildren of Porto Alegre, Brazil. Two of them were concordant for dysgraphia, dysorthographia, dyslexia, and speech defects, while the other was concordant for dysorthographia and dyslexia, but discordant for dysgraphia. Two of the mothers and two sibs also presented language problems, but of a type that was not completely similar to those of the twins. Concomitant neurological and psychological studies, as well as the family histories, helped to understand the similarities and dissimilarities observed.

One of twins was bom with prune belly syndrome and congenital heart defect following exposure to Bendectin and Tigan. Red cell antigens and HLA typing were compatible with monozygosity. The possible associations of the prune belly syndrome to monozygotic twinning or to teratogenic agents is considered in light of this patient and review of the literature.

A study of 111 mothers of twins in Nottinghamshire, England, in 1981-82 showed that at least 12 had used ovulation stimulants, compared to 2 of 102 mothers of singletons. Thus, the use of ovulation stimulants increased the twinning rate of this population by about 10 percent; this may explain the recently noted levelling off in the secular decline in twinning rates. In contrast to a recent study in France, no association between twinning and prior use of oral contraceptives was seen.

In a sample of 63 like-sex dizygotic twins, red blood ceE and plasma magnesium and red blood cell zinc concentrations were analyzed for linkage to each of 23 genetic systems by estimating correlation between proportion of genes identical by descent and biological resemblance for the trait. The results suggest possible linkage of red blood cell magnesium with the HLA locus and of red blood cell zinc with the GLO1 locus. However, studies applying more powerful tests are needed to confirm such conclusions.

A BASIC computer program designed to facilitate analysis of twin data is presented. The program estimates genetic parameters and tests their statistical significance based on the genetic and environmental hypothesis.