Congenital ventral hernia associated with infantile idiopathic scoliosis.
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Biomedical subjects
Publications and source records attributed to P Merlob.
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A retrospective study of the diagnostic implications of conjugated hyperbilirubinemia complicating ABO hemolytic disease of the newborn (HDN) was done by studying the records of 264 infants with ABO-HDN. Direct hyperbilirubinemia was found to complicate ABO-HDN in 3 per cent of the infants, all being full term. Eighty-seven per cent were female and familial occurrence was noted in half of the cases. Most of the infants presented with anemia on the first day of life. Our data suggest that this is a benign complication of ABO-HDN which clears within a month.
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Eight hundred preterm (PT) and low-birth-weight (LBW) infants, born during a period of 33 months, were examined for erythrocyte glucose-6-phosphate dehydrogenase (G6PD) activity. Each of 17 infants with G6PD deficiency was compared with the next PT or LBW infant born with normal enzyme activity. The groups were similar with respect to gestational age, birth weight, maximal weight loss, breast or formula feeding and the use of oxytocin during labor. Peak bilirubin levels were significantly higher in G6PD-deficient PT and LBW infants (11.7 +/- 1.4 vs. 9.5 +/- 2.1 mg/dl, P less than 0.001). There were no signs of frank hemolysis, and none of the patients underwent exchange transfusion. Early jaundice and the use of phototherapy were somewhat more frequent among the G6PD-deficient group, but not significantly so. It is suggested that PT and LBW infants born to parents of Asian or North African origin be routinely screened for erythrocyte G6PD activity and monitored for possible jaundice.
Over a seven year period 23 neonates with spontaneous pneumothorax and/or pneumomediastinum (SPP) were diagnosed in 24,739 live birth infants (0.09 percent). Of these, eight (35 percent) had renal anomalies. Three showed severe renal dysfunction and typical Potter facies and died within 34 hours. Their lungs were shown to be hypoplastic with a reduced lung weight: body weight ratio or a low radial alveolar count. One patient had left hypoplastic and right polycystic kidneys. Four patients with obstructive uropathies did not show the typical facies, and SPP was the only sign leading to their early diagnosis and therapy. We conclude that nephrologic evaluation is indicated in newborns with unexplained SPP and recommend abdominal ultrasound and if indicated renal scan and/or intravenous pyelography as part of the initial evaluation.
In order to define standards for sternal length, torso length, and internipple distance in the newborn infant, 198 term and preterm infants (27 to 41 gestational weeks) were examined. In every case, the gestational age was determined chronologically and clinically. Sternal and torso length and internipple distance were measured by two observers using standard measurement techniques. Normal values are presented by plotting the mean +/-2 SD for each gestational week v the gestational age.
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The purpose of this study was to establish normal anthropometric standards for eye measurements in newborn infants born between 27 and 41 weeks of gestation. In 198 term and preterm newborn infants, palpebral fissure size and inner and outer canthal distances were measured and the interpupillary distance was calculated. The mean and 2 SD from the mean for each gestational week was determined, and the normal values are presented as intrauterine growth curves of these parameters for gestational age.
Aspartic acid concentration in CSF was markedly elevated in a newborn infant with severe, intractable seizures. The levels of all other amino acids in blood, urine, and CSF were within the normal range. Two of the six other siblings in this consanguineous family died in early infancy of a similar condition. Since aspartic acid is a putative excitatory neurotransmitter, a possible causal relationship is suggested between its increased CSF concentration and the occurrence of neonatal convulsions in this family.
A newborn infant with craniofacial dysmorphism and polysndactyly (Greig's Syndrome) is reported. This syndrome is manifested by postaxial polydactyly of the fingers and preaxial polydactyly of the toes, with syndactyly. The craniofacial dysmorphism is characterized by frontal bossing and other variable manifestations. X-ray examination revealed markedly advanced bone age. The mode of inheritance appears to be autosomal dominant.
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Two unrelated Jewish families are reported with new clinical and radiographic findings observed in the trichorhinophalangeal syndrome (TRPS). These new observations are mainly of a skeletal nature and emphasize the wide range of expressivity found in the TRPS. Furthermore, these bony defects along with the characteristic hair changes suggest that the basic defect in this syndrome involves some developmental alteration in the normal growth and maturation of bone and hair.
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