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Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex

  • Immunology/Allergology
  • Published:
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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.

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Abbreviations

ALS:

antilymphocyte serum

cAMP:

cyclic adenosine monophosphate

ConA:

conconavalin A

MLR:

mixed lymphocyte reaction

1,25-(OH)2D:

1,25-dihydroxyvitamin D

PBMC:

peripheral blood mononuclear cells

PHA:

phytohaemagglutinin

PTH:

parathyroid hormone

PWM:

pokeweed mitogen

TmP/GFR:

tubular maximal reabsorption of phosphate/glomerular filtration rate

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Authors and Affiliations

  1. Clinical Genetic Centre, University Hospital Leiden, P.O. Box 9600, 2300 AC, Leiden, The Netherlands

    P. D. Maaswinkel-Mooij & J. J. P. Van De Kamp

  2. Clinical Investigation Unit, Department of Endocrinology, University Hospital Leiden, P.O. Box 9600, 2300 AC, Leiden, The Netherlands

    S. E. Papapoulos & A. H. Mudde

  3. Department of Paediatrics, University Hospital Leiden, P.O. Box 9600, 2300 AC, Leiden, The Netherlands

    P. D. Maaswinkel-Mooij, E. J. A. Gerritsen & J. J. P. Van De Kamp

Authors
  1. P. D. Maaswinkel-Mooij
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  2. S. E. Papapoulos
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  3. E. J. A. Gerritsen
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  4. A. H. Mudde
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  5. J. J. P. Van De Kamp
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Maaswinkel-Mooij, P.D., Papapoulos, S.E., Gerritsen, E.J.A. et al. Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex. Eur J Pediatr 149, 179–183 (1989). https://doi.org/10.1007/BF01958276

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  • DOI: https://doi.org/10.1007/BF01958276

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