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  • 1
    Electronic Resource
    Electronic Resource
    Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex (1989)
    Springer
    European journal of pediatrics 149 (1989), S. 179-183 
    Details
    ISSN: 1432-1076
    Keywords: DiGeorge complex ; Inheritance ; Hypoparathyroidism ; Thymic dysfunction ; Velo-cardio-facial syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A boy born at full-term died after 14 days from cardiac failure. At autopsy DiGeorge complex was diagnosed. The father was found to have facial dysmorphia and hypocalcaemia. Investigations revealed no cause other than hypoparathyroidism associated with normal serum 1,25-dihydroxyvitamin D concentrations and normal renal handling of phosphate. Immunological tests, performed on two occasions with an interval of 9 months, revealed a decrease in the number of CD8+ lymphocytes, compatible with a partial thymus deficiency. The combination of facial dysmorphia with dysfunction of the thymus and the parathyroid glands can constitute a partial DiGeorge complex. The findings in this family are compared with reports of four other families with DiGeorge complex in two generations. In genetic counseling DiGeorge complex should be considered a heterogenous disorder. Screening of the parents for somatic stigmata, hypocalcaemia, disturbed cellular immunity, cardiac and chromosomal abnormalities is essential.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01958276
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Usefulness of Armspan and Height Comparison in Detecting Vertebral Deformities in Women (1999)
    Springer
    Osteoporosis international 9 (1999), S. 129-133 
    Details
    ISSN: 1433-2965
    Keywords: Key words:Armspan – Height – Osteoporosis – Vertebral deformities
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract: The prevalence of vertebral fractures in women increases with age but only about one third of these fractures are symptomatic. On the other hand, the presence of vertebral fractures is an independent risk factor for new osteoporotic fractures. In the present study we examined the hypothesis that differences between armspan and height are related to the presence of vertebral deformities in a cohort of 494 women aged between 55 and 84 years (mean age 67.6 years, SD 8.2 years) who were randomly selected from a large general practice in The Netherlands. Height and armspan were measured and vertebral morphometry of lateral radiographs of the spine was performed. Both height and armspan decreased significantly with age. The correlation between armspan and height was 0.83. Vertebral deformities were present in 32.7% of the women (grade I in 22.4% and grade II in 10.3%). Only the prevalence of grade II deformities rose with age. The variation of the difference between armspan and height in the groups with or without grade II vertebral deformities was comparable and relatively large (range 〉15 cm). The difference in mean values was small between those groups (1.6 cm) and could not differentiate between women with and without vertebral deformities. Our data show that the presence of vertebral deformities cannot be detected by the difference between armspan and height.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001980050125
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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