Facial clefts and associated limb anomalies: description of three cases and a review of the literature.

Facial clefts are rare congenital malformations. In the literature these are sometimes reported in combination with limb malformations, especially ring constrictions. This article describes three children with facial clefts and limb ring constrictions with various expressions. The first case has a lateral cleft with associated limb malformations. This combination has, to our knowledge, not yet been reported. The literature about facial clefting and the amniotic band syndrome and the possible etiology of clefting and constrictions in these cases are discussed.

Indicators of long chain polyunsaturated fatty acid status of exclusively breastfed infants at delivery and after 20-22 days.

The fatty acid composition of plasma cholesterol esters (CE), erythrocytes (RBC) and mature milk from seven lactating/women and their exclusively breastfed newborns, living on Dominica, were studied. Blood samples were taken from umbilical cord and mother at birth. A sample of breastmilk was collected on day 20-22 postpartum, together with a blood sample from the baby. At birth, cord blood plasma CE and RBC total long chain polyunsaturated fatty acid (LC-PUFA) contents were higher, and linoleic (18:2c, omega 6) and alpha-linolenic (18:3c, omega 3) acid contents lower, than in corresponding maternal compartments. Cord blood RBC LC-PUFA omega 3 content was lower and LC-PUFA omega 6 content higher than in maternal RBC. After birth, feeding with human milk led to a drop in LC-PUFA content in the plasma CE fraction, whereas RBC LC-PUFA content remained virtually constant. Current understanding of the origin and relative affinity of fatty acids incorporated in plasma CE and RBC suggests that RBC LC-PUFA content is a more reliable parameter for LC-PUFA status than plasma CE LC-PUFA content. The RBC LC-PUFA data suggest therefore that at birth the newborn has a lower LC-PUFA omega 3 status than the mother, and that this does not change during three weeks of exclusive breastfeeding.

Vitamin E, lipid fractions, and fatty acid composition of colostrum, transitional milk, and mature milk: an international comparative study.

Triglycerides, cholesterol, fatty acid composition, and tocopherols were determined in colostrum, transitional milk, and mature milk in St Lucia. With progress of lactation, triglycerides and percentage medium-chain fatty acids increased whereas tocopherols, cholesterol, and percentage long-chain polyunsaturated fatty acids decreased. These changes reflect augmented de novo synthesis of fatty acids (8:0, 10:0, 12:0, and 14:0) in the mammary gland and a tendency of increasing fat-globule size as milk matures. Transitional and mature milks, but particularly colostrum, contained higher concentrations of components considered to be derived from the fat-globule membrane (cholesterol, tocopherols, percentage long-chain polyunsaturated fatty acids) compared with those reported for Western countries. Percentage medium-chain fatty acids in mature milk was two to three times higher than in developed countries. Differences from data from studies in Western countries are discussed in relation to analytical methods and possible consequences for lipid digestion, lipid absorption, growth, and brain development.

Weight loss in full-term negroid infants: relationship to body water compartments at birth?

The possible influence of the body fluid compartments at birth on postnatal weight loss was studied in normal term negroid infants when on a standardized oral fluid, sodium and energy regimen during the first three days of life. Measurements of plasma volume (PV), total body water (TBW), and extracellular water (ECW) were performed simultaneously on vaginally-born infants on the first day of life, by using a triple indicator (Evans blue, deuterium oxide and sucrose) single injection dilution technique. PV was 54 +/- 7 ml/kg (N = 9), TBW was 751 +/- 50 ml/kg (N = 13) and ECW was 311 +/- 61 ml/kg (N = 13) (mean +/- S.D.). Postnatal weight loss (3.7% of birth weight) occurred during the first two days. The postnatal weight loss was not related to any of the body water compartments. However, there was a highly significant correlation with the (cumulative) urine water excretion (r = 0.833, P less than 0.001 on day 1, with similar values for days 1 and 2).

Conjoined twins and abdominal pregnancy.

Abdominal pregnancy is rare; conjoined twins are also rare. The diagnosis of abdominal pregnancy is easily missed and often not made until near full-term. Similarly conjoined twins are not diagnosed until late in gestation or during parturition. In this case, the diagnosis of conjoined twins and abdominal pregnancy was only made during laparotomy.

Comparison of the fatty acid composition of human milk from mothers in Tanzania, Curacao and Surinam.

Fatty acid composition of mature human milk from Curacao (Netherlands Antilles), Surinam and Tanzania was determined by capillary gas chromatography. In the Curacaoan samples the cholesterol and alpha- and gamma-tocopherol concentrations were also determined. Remarkable differences were found in the fatty acid composition of breastmilk fat from the three countries. The differences in the levels of medium chain fatty acids between Curacao and Tanzania, and between Curacao and Surinam were significant. The mean sum of the essential fatty acids linoleic acid and linolenic acid showed the highest values in Curacao (16.1 g per cent). Mean values for Tanzania and Surinam were 14.9 and 12.7, respectively. The mean level of the docosahexaenoic acid was higher in the Curacaoan and Surinam samples compared with that from Tanzania. In the Curacaoan breastmilk samples the concentrations of cholesterol and alpha- and gamma-tocopherol were about twice as high as those reported for Western countries.

Osteogenesis imperfecta in Kweneng-district (Botswana).

Osteogenesis imperfecta is a rare disorder with a prevalence of 1 per 20,000 to 60,000 births in Western countries; the prevalence in Botswana maybe higher. In this report two patients with this disorder are described and discussed. The importance of early detection and proper management during infancy and childhood is emphasized in order to improve the quality of life.

The significance of different types of information in calculating the probability that a female relative of a Duchenne muscular dystrophy patient is a carrier.

Carrier probabilities were calculated in 27 Duchenne muscular dystrophy (DMD) families with 68 possible carriers on whom carrier testing data were available. For each of the 68 possible carriers, eight different calculations were performed. The calculations differed by leaving out none, one, two or all three of the following different types of posterior information: the result of carrier testing in the consultand; the presence of unaffected sons of possible carriers in the family; the result of carrier testing in possible carriers, other than the consultand. All three types of posterior information proved to be equally important. Our data thus provide evidence in favour of the whole family approach in DMD genetic counselling as opposed to counselling of isolated DMD relatives.