title: Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex.
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.
authors.affiliation: Clinical Genetic Centre, University Hospital Leiden, The Netherlands.
authors.forename: P D
authors.initials: PD
authors.lastname: Maaswinkel-Mooij
authors.forename: S E
authors.initials: SE
authors.lastname: Papapoulos
authors.forename: E J
authors.initials: EJ
authors.lastname: Gerritsen
authors.forename: A H
authors.initials: AH
authors.lastname: Mudde
authors.forename: J J
authors.initials: JJ
authors.lastname: Van de Kamp
mesh_terms: D000328:Adult; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D005146:Facial Asymmetry / Q000235:genetics* / Q000473:pathology; D005220:Fathers; D005817:Genetic Counseling; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics* / Q000378:metabolism; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007231:Infant, Newborn; D008206:Lymphatic Diseases / Q000235:genetics* / Q000276:immunology; D008297:Male; D013950:Thymus Gland