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  • American Academy of Pediatrics (AAP)  (5)
  • 1980-1984  (5)
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  • American Academy of Pediatrics (AAP)  (5)
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  • 1980-1984  (5)
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  • 1
    Online Resource
    Online Resource
    American Academy of Pediatrics (AAP) ; 1981
    In:  Pediatrics In Review Vol. 3, No. 2 ( 1981-08-01), p. 57-64
    In: Pediatrics In Review, American Academy of Pediatrics (AAP), Vol. 3, No. 2 ( 1981-08-01), p. 57-64
    Abstract: Humans sustain a reproductive loss of approximately two of every three fertilizations; prenatally, much of this death is associated with malformations that are mainly due to chromosome abnormalities. Up to half of all pre- and postimplantation ova in man may have chromosome defects that are more than 98% lethal. The earlier the stage of development at the time of the spontaneous abortion the greater is the number of malformations and chromosome defects; nearly 80% of embryos that reach a 2-week stage of development have a chromosome defect, as do more than 60% of those developing to 12 weeks, approximately 6% of stillborn infants, and 0.6% of all live-born infants. Even nonchromosomally caused single congenital defects have a high prenatal death rate. Besides chromosome defects, multifactorial traits and single gene (mendelian) mutations are the next most common class of congenital defects. Prior fetal wastage with or without prematurity of previous live-born infants increases the risk of subsequent fetal loss; the greater the number of preceding spontaneous abortions the smaller is the chance of a subsequent live-born child. One fourth of all stillborn fetuses have one or more than one malformation or a syndrome, in many cases associated with a substantial risk of recurrence. After "certain diseases of early infancy" (mostly prematurity and hyaline membrane disease) congenital malformations remain the most important cause of infant mortality (60% of which occurs by the seventh day of life). It is important for pediatricians to take much greater cognizance of the amount of genetic disease involved in fetal wastage and infant death, to collaborate more effectively with obstetricians, pathologists, anatomists, and geneticists in determining diagnosis and risk of recurrence, and to counsel more accurately those who have lost a fetus or infant. Such fetuses and infants deserve the same meticulous examination, evaluation, and documentation as an older malformed child being brought in for diagnostic, prognostic, and genetic counseling. A fetal loss may cause as much sorrow as an infant death; this grief must be addressed explicitly but gently and sympathetically before any other considerations are put before the parents as they decide on whether or not to create a new life.
    Type of Medium: Online Resource
    ISSN: 0191-9601 , 1526-3347
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1981
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  • 2
    Online Resource
    Online Resource
    American Academy of Pediatrics (AAP) ; 1984
    In:  Pediatrics Vol. 74, No. 4 ( 1984-10-01), p. 570-570
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 74, No. 4 ( 1984-10-01), p. 570-570
    Abstract: To the Editor.— The effects on the fetus of maternal-fetal incompatibility involving RBC antigens are well known. Similar effects involving platelet antigens are less well known. We should like to call attention to the dramatic and potentially lethal results of such incompatibility which currently, unless suspected, often is undiagnosed. Recently, we studied a young married woman who has been pregnant four times. At 19 years of age, she had a first trimester therapeutic abortion. At 22 years of age, she aborted spontaneously a set of twins at 13 weeks; these twins were not studied and the pathogenesis of their demise is unknown.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1984
    detail.hit.zdb_id: 1477004-0
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  • 3
    Online Resource
    Online Resource
    American Academy of Pediatrics (AAP) ; 1980
    In:  Pediatrics Vol. 66, No. 2 ( 1980-08-01), p. 277-281
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 66, No. 2 ( 1980-08-01), p. 277-281
    Abstract: Four unrelated children with the Miller-Dieker syndrome, previously referred to as the lissencephaly syndrome, have been evaluated, bringing to ten the number of patients reported with that disorder. We wish to emphasize that lissencephaly is etiologically non-specific and represents only one feature in this malformation syndrome. Other features, such as the craniofacial, neurologic, and growth abnormalities, are more helpful in diagnosing this autosomal recessive disorder.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1980
    detail.hit.zdb_id: 1477004-0
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  • 4
    Online Resource
    Online Resource
    American Academy of Pediatrics (AAP) ; 1982
    In:  Pediatrics In Review Vol. 3, No. 9 ( 1982-03-01), p. 267-271
    In: Pediatrics In Review, American Academy of Pediatrics (AAP), Vol. 3, No. 9 ( 1982-03-01), p. 267-271
    Abstract: It would be a "fallacy of misplaced emphasis" to devote this review only to facts, data, and specific syndromes. A necessary minimum of developmental biology will be presented; however, the main focus will be on method, ie, on effective use of eyes and intellect to learn "phenotype analysis," which is the analysis of normal and abnormal developmental variability. In spite of the valiant efforts of the late David W. Smith,1 pediatric education on this subject remains handicapped in several major ways: 1. Overemphasis on the metabolic and biochemical aspects of disease and lack of expertise in methods of morphologic analysis by staff and faculty lead to lack of confidence in ability to do a complete physical examination and to interpret structural changes correctly; 2. Excessive preoccupation with the abnormal without encouraging study of the normal frequently results in over-interpretation and misinterpretation of normal variants as minor anomalies and the persistence of that offensive nonentity—"the funny looking kid (FLK)"; 3. Lack of instruction in anthropometric methods results in frequent failure to quantitate and to interpret physical traits accurately and leads to such erroneous statements as "height at birth..." (length is meant); "this microcephalic child had large ears" (head is small, ears are normal); "this Down syndrome child had a highly arched palate" (palate height is normal in the Down syndrome, it is length that is mostly severely reduced);
    Type of Medium: Online Resource
    ISSN: 0191-9601 , 1526-3347
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1982
    Location Call Number Limitation Availability
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  • 5
    Online Resource
    Online Resource
    American Academy of Pediatrics (AAP) ; 1980
    In:  Pediatrics In Review Vol. 2, No. 2 ( 1980-08-01), p. 41-50
    In: Pediatrics In Review, American Academy of Pediatrics (AAP), Vol. 2, No. 2 ( 1980-08-01), p. 41-50
    Abstract: 1. Approximately 3% of the population (6 to 7 million persons in the United States) is mentally retarded. Of these, severe mental retardation (IQ & lt;50) occurs in about 10% (3 or 4 per 1,000 persons) and mild mental retardation (IQ 50 to 70) in 90%. 2. The high familial occurrence, the continuously variable phenotype shading into normality, and various genetic studies suggest that most of mild mental retardation represents the left end of the normal IQ distribution curve. Virtually no such cases can be found in the group of the severely retarded, either within or outside the institutions, suggesting that the majority of severe mental retardation represents discontinuous phenotypes due to chromosomal, environmental, mendelian, and multifactorial causes. 3. Some mild mental retardation represents syndromal occurrence (ie, mild PKU, rubella syndrome, Klinefelter syndrome); however, in most cases no anomalies are found, chromosomes are normal, height and head circumference fall within normal limits, and few have neurologic deficits, such as cerebral palsy and/or seizures. In the mildly retarded, personal, emotional and psychosocial problems predominate. The severely retarded are a biologically different group with a high incidence of gross neurologic disturbances, growth failure, abnormal head circumference, single or multiple malformations, and metabolic diseases. 4. The severely retarded are generally infertile, the mild retarded less fertile than average; however, a small minority among the latter contributes a disproportionately large number of retarded offspring to the next generation. 5. Most mental retardation can be evaluated on an outpatient basis for causal, pathogenetic, and prognostic factors. The evaluation can be economic, quick, reliable, painless, and efficient in most instances; however, CNS degenerative diseases may require a brief inpatient stay for biochemical evaluation. By all odds the most informative items in the work-up of the retarded are the (family and past) history and the (physical and neurologic) examination. Metabolic screening is usually not indicated in the malformed, neither are cytogenetic studies in the nonmalformed. 6. All patients with mental retardation deserve a diagnostic/causal evaluation and their families prognostic/genetic counseling. 7. Some 70% of mental retardation in the general population can be attributed to genetic causes. Genetic counseling in severe mental retardation is to prevent recurrence in siblings; in the mildly retarded much greater emphasis is placed on the prevention of retarded offspring.
    Type of Medium: Online Resource
    ISSN: 0191-9601 , 1526-3347
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1980
    Location Call Number Limitation Availability
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