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We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome.

An unusual case of miliary tuberculosis which presented as fever and a tubo-ovarian abscess in a postpartum patient is described. Fatal congenital tuberculosis was also diagnosed in the mother's premature infant. The difficulties encountered in diagnosing the tuberculosis in these patients are summarized, and the need for early recognition and therapy is emphasized. Epidemiologic follow-up of the premature infant's exposed contacts was thorough and revealed no new cases of tuberculosis among the infants or the personnel who were exposed to the infected baby.

In a comparative study of 93 small-for-gestational-age (SGA) infants against 93 weight-matched, appropriate-for-gestational-age (AGA) neonates, the SGA group exhibited a significantly lower incidence of periventricular-intraventricular type intracranial hemorrhage (ICH) at the first ultrasound scan than did the AGA neonates (9/93 vs 21/93; p < 0.02). This apparent advantage was no longer maintained in later scans of the first week (16/93 vs 27/93; NS), despite the fact that the SGA group were 4 weeks advanced in gestational age and had fewer respiratory problems than the AGA controls. It is prudent, therefore, to follow SGA infants closely for ICH by repeat ultrasound examinations even if the first scan is negative. Evaluation of the subgroup of SGA infants with ICH against the total SGA population revealed lower admission body temperature and Apgar scores, and higher incidence of asphyxia, resuscitation, and mortality. The above observations in SGA infants with ICH and the lack of a similar trend between the AGA infants with ICH and the total AGA population suggest that SGA status, hypothermia, and ICH are interrelated. Hypothermia, therefore, can be used as a convenient marker for the possibility of ICH in low birth weight SGA infants. The authors' data is consistent with the view that hypothermia and ICH are both the consequences of perinatal asphyxia in SGA infants and probably reflect the magnitude of stormy perinatal events.

One hundred and eight “exchange” blood transfusions were done on 61 newborn infants. Baseline serum PTH concentrations and the PTH rise in response to citrate-induced hypocalcemia were studied. Baseline PTH values increased with increasing postnatal age, particularly after the first three days of life. The acute response of PTH to citrate-induced hypocalcemia appears within ten minutes following the initiation of exchange transfusion and was shortlived in spite of further decline of serum ionized calcium. The dominant effect of postnatal age over gestational age was demonstrated: postnatally older but gestationally less mature infants exhibited greater responsiveness than postnatally younger, but gestationally more mature, infants. The PTH response during exchange transfusion was blunted in hypomagnesemic infants. Since lower serum magnesium concentrations were also present during the first three days of life, a separate effect of serum magnesium concentrations on parathyroid responsiveness cannot be ruled out in this study.

In 25 newborn infants, 30 "exchange" transfusions were performed. Pre-exchange serum calcitonin concentrations of newborn infants were higher than those of normal adults and of donor blood used for exchange transfusion. A gradual decline of serum calcitonin concentrations was observed with increasing postnatal age. Serum calcium and magnesium concentrations were inversely related to serum calcitonin concentrations. Newborn infants had significant elevations of serum calcitonin values within a few minutes after the administration of calcium. Gestationally younger infants (less than or equal to 33 weeks) had significantly more pronounced and swifter elevations of serum calcitonin concentrations after calcium administration than gestationally more mature infants (less than 33 weeks). We speculate that calcitonin may be an important "fetal hormone" and that increased calcitonin concentrations may relate to the pathogenesis of neonatal hypocalcemia.

Since twins have a higher incidence of premature birth, fetal distress, asphyxia and other pre- and intrapartum high-risk factors, it is reasonable to expect that they may be vulnerable to intracranial hemorrhage. Forty-seven pairs of low-birth-weight twins were studied during the newborn period by serial cranial ultrasound. The comparisons of groups, based on birth order, relative size of the neonates, and the mode of delivery, showed no significant differences in the incidence of intracranial hemorrhage between first and second twins, smaller and larger twins, or vaginal and cesarean delivery. However, the comparison based on the presentation of the infant revealed a significantly higher number of intracranial hemorrhages within the first week of life in the breech group than in the cephalic presentation group. The adverse effect of breech presentation on intracranial hemorrhage did not appear to be mediated by the well recognized risk factors such as lower gestational age, lower Apgar scores, and higher incidence of respiratory distress syndrome and assisted ventilation. Since most of the twins with ICH had breech presentation and were delivered by cesarean section, this mode of delivery does not seem to protect the twins with breech presentation from intracranial hemorrhage.

Perinatal stress may induce a surge of hormonal responses which includes the thyroid hormones. Information is inadequate with regard to the surge of thyroid hormones at the time of delivery as it relates to the type of CS. We studied 33 motherinfant pairs who had elective (E) or primary (P) CS. The infants studied had (x) gestational age of 38.0 wk. All thyroid hormone measurements made on venous cord blood obtained immediately after delivery on two CS groups follow (X±SEM): The following is comparative serum TSH concentrations (X±SEM) of subgroups of infants who underwent CS delivery with and without preceeding labor: The data suggest that labor may suppress TSH and the events surrounding the primary CS stimulates this surge at the time of delivery. The mechanism operative is not clear and needs further study.

Serum enzymes in the human fetus may originate from mother, placenta or the fetus. We studied paired samples of umbilical cord artery (A) and venous (V) serum enzyme activities, namely, creatine phosphokinase (CPK), lactate dehydrogenase (LDH), aspartate aminotransferase (AST), amylase and alkaline phosphatase (Alk-P). The study group consisted of a total of 30 infants with a birth weight (mean±SD) of 3040±501 gm, and gestational age of 38.6±2.4 wks. The following is a comparison between venous and arterial serum levels of the remaining enzymes

It is generally expected that the second-born twin may have an acute distress due to the adverse effects of intrapartum period and the small twin is usually a subject for intrauterine chronic distress which may both lead to an intracranial bleed. We studied 21 pairs of low birth weight (LEW) twin pregnancies to see whether the incidence and severity of US abnormalities, such as PVH, IVH, PH and VD, are different between the pairs. The study population had a gestational age of (X) 32.8 wk, birth wt of 1649 g, 5 minute Apgar score of 7.9 and the postnatal age at first US examination of 45.6 h. Comparison between twin (A) and (B) and also twin Small (S) and Large (L) follows: The entire comparison also shows no significant difference between the sequence and size based groups as they relate to cranial US and other relevant clinical parameters. There appears to be no evidence of relative increase in the incidence or severity of PVH, IVH, PH and VD in twin infants during immediate, early and late neonatal period.

Since there is a relationship between prostaglandin metabolism, Se and glutathione peroxidase (GSH-PX), and diabetics are reported to have low levels of Se and prostacyclin, we have wondered whether some of the problems which occur in IDM (cardiomyopathy and persistent fetal circulation) might be related to Se deficiency. We studied Se in whole blood of IDM (within 1-2 days after birth) and their mothers. The IDM had a birth weight (mean±SD) of 3857±1075 gm, gestational age of 37.8±1.5 wks, 1 and 5 minute Apgar scores of 7.3±2.7 and 8.8±1.7 respectively. Correlation between the maternal and infants' blood Se concentration in IDM group was not significant. Comparison between IDM, normal full term newborn (NB) infants, and the mother of IDM follows: This preliminary study did not find unusually low Se in whole blood of IDM or their mothers, but because of the potential importance of Se in IDM, a larger study is still indicated.

VD is not an infrequent observation during an ultrasound (US) examination of the head in LBW newborns. Very little information is available with regard to its pathogenesis, evolution and significance. We studied 59 LBW infants who were identified as having VD [VD(+)] by the first cranial US examination (US #1) which was done during the immediate neonatal period (mean age 3.03 days) and compared with 59 wt and gestation matched controls without VD [VD(-)] who were selected with no knowledge of the result of US findings. US follow-up of the study and control infants are shown in the following tables (#, X+SEM): The isolated VD seems to have a relatively benign neonatal course. The higher incidence in white infants was unexpected and needs to be confirmed in a larger study.

The optimal dose for health and the toxic dose of Se are not widely separated. Very little information is available about the toxic effects of Se during perinatal period, particularly on growth. We studied 13 group (A) and 15 group (B) suckling rat pups by providing sodium selenite in the drinking water of their corresponding mothers, dam A and dam B, at the concentration of 0 and 3 ppm Se, respectively. After the first 3 weeks of exposure, 6 of the dam B pups were adopted by dam A who had no Se in drinking water (C). Experiment was carried out during the first 6 veeks post partum. Percent change in wt from the baseline values (Ao and Bo) follows: Se concentrations were higher in every tissue of B compared to A. Two of the B pups died although their dams were not intoxicated. Se obtained through breast milk may have a toxic influence on suckling rat pups including a retarding effect on growth despite the absence of an effect on the corresponding dam which nay be indicative of a relative increase of susceptibility. The effect on growth seems to be partially reversible.

The effect of sex on perinatal mortality is well known and morbidity has been under investigation. Higher incidence of periventricular hemorrhage (PVH) in males has been reported by others. On the basis of a first cranial ultrasound (US) examination, the following sex distribution was found in this study of 59 LBW infants which was designed to examine the incidence of PVH, intraventricular hemorrhage (IVH), parenchymal (PH) hemorrhage, isolated VD and the control infants who had no lesions: A similar trend persisted throughout the 2nd and 3rd US. In a separate larger study, designed to examine the incidence of VD present (+) against the VD absent (-) control group on the basis of the first US examination, VD (+)/(-) ratio was 24/32 (43%) for females, 35/27 (57%) for males (

RELATIONSHIP BETWEEN INTRACRANIAL ULTRASOUND (US) ABNORMALITIES AND VENTILATORY ASSISTANCE (VA) IN LOW BIRTH WEIGHT (LBW) INFANTS

SERUM TRACE ELEMENTS AND CERULOPLASMIN (CP) CONCENTRATIONS ON MATERNAL AND CORD BLOOD AT DELIVERY

1357 DISTRIBUTION OF ACUTE INTRACRANIAL LESIONS IN SMALL FOR GESTATIONAL AGE (SGA) INFANTS DURING NEONATAL PERIOD