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Biomedical subjects

F Greenberg

Publications and source records attributed to F Greenberg.

At least 109 records · Page 6Linked to original sources
PubMed1985

Trends in clinical characteristics of infants with spina bifida--Atlanta, 1972-1979.

In Atlanta, the birth prevalence of spina bifida declined from 10.1 per 10,000 live births in 1972-1973 to 5.8 per 10,000 live births in 1978-1979. This trend cannot be explained by use of prenatal diagnosis, because it was unavailable in Atlanta until 1976, and even in the late 1970s was not used widely. To determine if this decrease was associated with changes in the distribution of clinical characteristics among infants with spina bifida, we reviewed the medical records of a population-based group of 154 infants with spina bifida, born in Atlanta during the eight-year period from 1972 through 1979. Distribution by the highest level of the defect on the spine did not change during these years. The proportions of infants with isolated spina bifida (ie, no other major malformations) and with open spina bifida (ie, not covered by skin) did, however, decrease. When we examined these two characteristics simultaneously, we found declines in both the proportion of infants with open-isolated spina bifida and the birth prevalence of infants with open-isolated spina bifida. If this trend persists, it will have important implications for workers involved with prenatal alpha-fetoprotein screening and researchers investigating the etiology of spina bifida.

Abnormalities, Multiple↗
PubMed1985

Survival of infants with spina bifida--Atlanta, 1972-1979.

We studied the survival of a population-based cohort of 154 infants with spina bifida who were born during the eight-year period from 1972 through 1979 to residents of Atlanta. Our objectives were to describe the cohort's survival experience and to explore relationships between clinical characteristics and survival. Overall, 57% of the cohort survived one year or more. This figure is misleading, however, because it conceals important differences in survival among subgroups of affected infants. From univariate analyses, we observed significant differences in survival among infants categorized by year of birth, birth weight, the open-closed status of the defect, the highest level of the defect on the spine, the presence of multiple major birth defects, and the presence of hydrocephalus at birth. More infants born in the late 1970s survived their first year of life than infants born in the early 1970s; infants with open defects had lower survival than those with closed defects; and infants whose defects were low on the spine had better survival than those whose defects were higher. When comparing the survival experience of this cohort with that of other groups from other areas or from more recent years, health workers must consider referral biases and differences in the distribution of clinical characteristics.

Abnormalities, Multiple↗
PubMed1984

Clinical interpretation of maternal serum alpha-fetoprotein concentrations.

Concentrations of maternal serum alpha-fetoprotein provide the basis for decisions to proceed to ultrasonography and amniocentesis in the multistaged screening/diagnostic process used for the prenatal detection of open neural tube defects, abdominal wall defects, and twins. The concentration of maternal serum alpha-fetoprotein at or above which women should be advised that amniocentesis is available (cutoff levels for amniocentesis) varies, depending upon a number of factors, such as maternal weight, race, residence, and gestational age. We briefly describe a methodology for computing the predicted risks of fetal conditions associated with a given concentration of maternal serum alpha-fetoprotein adjusted for important variables. This adjustment methodology provides a straightforward means for clinical laboratories to report results of assays of maternal serum alpha-fetoprotein in terms of predicted risks, to facilitate understanding by the physician and patient of the clinical meaning of the results of maternal serum alpha-fetoprotein testing.

Amniocentesis↗
PubMed1984

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.

Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated lissencephaly sequence.

Abnormalities, Multiple↗
PubMed1984

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.

Partial monosomy of 22q due to an unbalanced 4;22 translocation was seen in a 2-month-old male with Type I truncus arteriosus, dysmorphic features, and T-cell abnormalities. The family history revealed a previous sib with Type I truncus arteriosus, thymic aplasia, and parathyroid hypoplasia noted on postmortem examination, consistent with DiGeorge syndrome. Evaluation of the asymptomatic mother of these two patients revealed partial T-cell deficiency and the same unbalanced translocation with deletion of proximal 22q11. These findings provide further evidence that some cases of complete or partial DiGeorge syndrome are associated with monosomy of the proximal long arm of chromosome 22, and they may explain many, if not all, familial cases of the syndrome.

Adult↗
PubMed1983

Estimates of birth prevalence rates of spina bifida in the United States from computer-generated maps.

A computer-generated mapping procedure was developed to estimate geographic and race-specific birth prevalence rates of open spina bifida. The estimates are based on birth certificate data adjusted for underascertainment. Separate maps were produced for white births and black births. For both races there is a general decreasing rate of spina bifida from east to west. The highest rates are eight per 10,000 total births for whites in Southern Appalachia, and the lowest rates are less than one per 10,000 for blacks in the Rocky Mountain states and the Pacific Northwest. Until more exact data are available, these maps represent the best current available data on racial and geographic birth prevalence rates in the United States. They are useful for program planning and as an aid in interpreting maternal serum alpha-fetoprotein levels to detect neural tube defects.

Black or African American↗
PubMed1983

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation resulting in partial monosomy of 17p13. A review of the literature revealed five additional patients in three families, who had Miller-Dieker syndrome and an abnormality of 17p. Thus, we propose that monosomy of distal 17p may be the cause of Miller-Dieker syndrome in some patients.

Abnormalities, Multiple↗
PubMed1983

Cystic hygroma and hydrops fetalis in a fetus with trisomy 13.

We report a case of trisomy 13 with cystic hygroma and generalized hydrops fetalis diagnosed prenatally by routine ultrasound prior to genetic amniocentesis in a 34-year-old woman. Although fetal cystic hygroma is usually associated with a 45,X karyotype, this and other previous reports suggest that it may be seen in association with other chromosomal and nonchromosomal abnormalities as well. Thus, a diagnosis of Turner Syndrome should not be made on the basis of a cystic hygroma observed by prenatal sonography alone.

Adult↗
PubMed1983

A population study of the VACTERL association: evidence for its etiologic heterogeneity.

Using the population-based data from the Metropolitan Atlanta Congenital Defects Program, the interrelation of the six defects that are components of the VACTERL association were investigated. There were 400 cases with two or more of these defects, whereas only 29 cases would be expected if the defects had occurred together randomly. There were 76 cases with three or more defects, whereas less than one case was expected. Of these 76 cases, seven had recognized causes (five chromosomal anomalies, two single-gene disorders); another 19 had recognized clinical phenotypes or syndromes of unknown etiology. In the remaining 50 cases, ventricular septal defect was the most common cardiovascular defect (30.0%), and renal agenesis was the most common renal anomaly (30%). Their most common limb defects were reduction deformities (34%) and polydactyly (20%). This study confirms the clinically recognized nonrandom occurrence of the VACTERL association. It also shows that the association is a spectrum of various combinations of its components, which can be a manifestation of several recognized disorders, rather than a distinct anatomic or etiologic entity. A common denominator of the VACTERL association is suggested to be a defective mesodermal development during embryogenesis, due to a variety of causes and leading to overlapping manifestations.

Abnormalities, Multiple↗
PubMed1982

Autosomal mosaicism in amniotic fluid cells from a twin pregnancy.

Amniocentesis was performed on a 39-year-old gravida 4 woman because of maternal age. Ultrasonography demonstrated a twin pregnancy, and two amniotic fluid specimens were obtained under direct ultrasound guidance. All cells analyzed from the first specimen were 46,XX. In the second specimen, one colony in each of two flasks had trisomy 9; the remaining 3 colonies analyzed were 46,XX. The total cell count in the second specimen was 14 (24%) of 58 cells which were trisomic for chromosome 9. The parents elected to continue the pregnancy, which resulted in two live-born infants, a male and a female, both chromosomally normal. The most likely explanation for the amniotic fluid finding is that fluid from one sac was sampled twice and that trisomic cells from the amnion were obtained during the second tap.

Adult↗
PubMed1982

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

We have seen three unrelated patients with the DiGeorge anomalad who also had the same deletion of chromosome 22 (pter leads to qll). In each, the remaining long arm material (qll leads to qter) was translocated to a different autosome. Our patients and a review of the literature, including a recent report of a family having four infants with the DiGeorge anomalad and the same deletion of chromosome 22 (de la Chapelle et al: Hum Genet 57:253, 1981), make a strong argument for at least some cases of the DiGeorge anomalad arising from a deletion of the pericentromeric region of chromosome 22.

Chromosome Deletion↗