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  • 1
    Electronic Resource
    Electronic Resource
    Analysis of etiologic factors in cerebral palsy with severe mental retardation (1976)
    Springer
    European journal of pediatrics 123 (1976), S. 67-81 
    Details
    ISSN: 1432-1076
    Keywords: Birth history ; Cerebral palsy ; Etiology ; Twinning ; Spastic tetraplegia ; Gestation length ; Birthweight
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We analyzed the gestational, parturitional, neonatal (GPN) histories of 281 severely mentally retarded patients with cerebral palsy to define the etiology or pathogenesis of cerebral palsy in each patient. No association between type of cerebral palsy and GPN histories was found except for an increase in spastic-athetoid patients in the breech delivery subgroup. Significant findings include: increased incidence of prematurity and postmaturity, small and large for-gestational age (GA) fetal size, a normal birthweight for GA distribution of patients with diabetic mothers, an excess of mothers ≥35 and ≤20 years old, an increased immediately-previous sib interval of 2.59 years suggestive of an “infertility factor”, an unremarkable GPN history in one third of the cases, in another one third GPN problems not usually associated with a high risk of CNS damage, and in one third gross complications which were probably responsible for the CP, including: an increased incidence of breech deliveries, twinning, prolonged and precipitous labor and placental complications; no increased association of athetosis and Rh incompatibility or incidence of toxemia was found. Disseminated intravascular coagulation due to prenatal death of a twin may have been the cause of brain damage in several patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442637
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  • 2
    Electronic Resource
    Electronic Resource
    A biologic and genetic study of 40 cases of severe pure mental retardation (1977)
    Springer
    European journal of pediatrics 124 (1977), S. 231-256 
    Details
    ISSN: 1432-1076
    Keywords: Severe mental retardation ; Etiology ; Family history ; Recurrence risk ; Autosomal recessive
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The family history of 40 patients with severe “pure” mental retardation (MR) was studied to determine the incidence of mental retardation and dull-normal intelligence among relatives, probable etiologies and an empriric recurrence risk. Significant findings include: (1) an increased sex ratio (69% males) of propositi, (2) a significant proportion of patients with clinical manifestations besides MR, (3) virtually no consanguinity among parents, (4) a “positive” family history for over 1/2 of the propositi—about 37% of all children in the sibships were affected; about 21% of the full sibs were affected, (5) a higher number of offspring produced by dull persons and a lower number of offspring from retarded persons compared to two normal persons, (6) a proportionately large number of affected children produced from matings involving one or two dull persons, (7) a tendency for dull persons to have additional dull children and mentally retarded parents to have further retarded children while normal parents with more than one affected child usually had further retarded children, (8) an incidence of affected parents of about 32%, and (9) an overall empiric recurrence risk of 14%. Several etiologies were discussed as possible causes of the condition(s) in this group: (unrecognized) environmental damage and/or maternal/fetal interaction; unrecognized chromosome abnormalities; the homozygous state of several different autosomal recessive genes; X-linked recessive mutations; autosomal dominant new mutations; and multifactorial inheritance. It was concluded that the group was etiologically heterogeneous and although none of the probable etiologies could be excluded, it seemed reasonable to assume that autosomal recessive inheritance plays an important role in the etiology of severe “pure” mental retardation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441932
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  • 3
    Electronic Resource
    Electronic Resource
    Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies (1975)
    Springer
    European journal of pediatrics 119 (1975), S. 87-103 
    Details
    ISSN: 1432-1076
    Keywords: Kleeblattschädel ; Developmental field defect ; Pfeiffer syndrome ; Dominant inheritance ; Hydrocephalus ; Bicuspid aortic valve ; Multiple minor visceral anomalies ; Apparent thanatophoric dwarfism ; Carpenter syndrome ; Apert syndrome ; Crouzon syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper reports sporadic occurrence of the Pfeiffer syndrome with Kleeblattschädel (KS) in a male infant who died at 6 months of pneumonia with signs of increased intracranial pressure and who was found to have hydrocephalus, polymicrogyria, cerebellar herniation, bicuspid aortic valve, a common mesentery, absence of lesser omentum, hypplasia of gallbladder, a single umbilical artery, and multiple eye defects. This case is presumed to represent a new mutation: in other families the Pfeiffer syndrome has been dominantly inherited. The Pfeiffer syndrome is a form of acrocephalosyndactyly and impresses clinically as a mild form of the Apert syndrome. The Kleeblattschädel is an etiologically non-specific developmental field defect (DFC); about two fifths of 51 known cases have apparent thanatophoric dwarfism and about one fifth are probable or possible examples of the Pfeiffer syndrome. The KS-DFC has also been seen in the syndromes of Carpenter, Apert and Crouzon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00443563
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    Paper (German National Licenses)
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