Spectrum of Di George syndrome in patients with truncus arteriosus: Expanded Di George syndrome

Summary A study of 26 patients with truncus arteriosus showed a high prevalence of facial dysmorphism, aortic arch abnormalities, extracardiac malformations, and significant prenatal risk factors. There was little evidence of parathyroid or thymic abnormalities. However, there was laboratory evidence of immune deficiency, especially T-helper lymphocytes, and clinical evidence of predilection to infection. These findings suggest that patients with truncus arteriosus belong to the spectrum of the Di George syndrome.     

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.

A microdeletion of chromosome 22q11.2 is found in most patients with velocardiofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome, and in some patients with Cayler cardiofacial and autosomal dominant Opitz-G/BBB syndromes. A wide spectrum of clinical findings accompanies the 22q11.2 deletion, without genotype or phenotype correlation even among affected family members. Classic features are dysmorphic facies, conotruncal cardiac defects, hypocalcemic hypoparathyroidism, T-cell mediated immune deficiency, and palate abnormalities. Less well recognized are learning, speech, feeding, and psychiatric disorders, and renal and musculoskeletal defects. Parathyroid and immune deficiencies in the same individual can progress or resolve with time. The 22q11.2 deletion can be inherited as an autosomal dominant or arise as a de novo deletion or translocation. Fluorescent in situ hybridization using cosmid probes mapping to the DiGeorge chromosomal region is a widely available method to detect the 22q11.2 deletion in metaphase chromosomes from cultured lymphocytes, amniocytes, or chorionic villi. The ubiquitin-fusion-degradation-1-like gene, expressed in embryonic branchial arches and in the conotruncus, appears to play a prominent role in the pathogenesis of the 22q11.2 deletion syndrome.     

Association of bilateral renal agenesis and Di George syndrome in an infant of a diabetic mother

We found at postmortem examination the association of bilateral renal agenesis and of apparently complete Di George syndrome in an infant whose mother was diabetic. Vertebral abnormalities and hallux duplication were present as well. There is a correlation between maternal diabetes and the bilateral renal agenesis-caudal dysplasia complex on one hand, and maternal diabetes and cardiac malformations on the other hand. Moreover, it has been suggested that the absence of thymus and parathyroids in Di George syndrome is causally linked to the cardiac malformation. Therefore we suggest that the association in our case is not coincidental; both sets of malformations may be due to the maternal diabetes.     

Complex transposition with interrupted right aortic arch and partial Di George syndrome: Successful palliation with combined medical and surgical therapy

Summary A five-day-old infant with transposition of the great arteries, ventricular septal defect, and an interrupted right aortic arch underwent successful balloon septostomy, pulmonary artery banding, and aortic arch repair. The infant also had abnormal facies with severe refractory hypocalcemia and depressed T-lymphocyte number and function believed to represent a partial Di George syndrome. The hypocalcemia resolved following treatment with a vitamin-D analogue, T-cell number increased, and T-cell function improved, but both remained subnormal.     

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)

Chromosome 22q11.2 deletion syndrome occurs in approximately 1 of 3000 children. Clinicians have defined the phenotypic features associated with the syndrome and the past 5 years have seen significant progress in determining the frequency of the deletion in specific populations. As a result, caregivers now have a better appreciation of which patients are at risk for having the deletion. Once identified, patients with the deletion can receive appropriate multidisciplinary care. We describe recent advances in understanding the genetic basis for the syndrome, the clinical manifestations of the syndrome, and new information on autoimmune diseases in this syndrome.     

Cardiopathies in Di George's syndrome]

Based on 11 personal cases a large review of the literature (188 cases), the authors studied the frequency and types of cardiac anomalies in Di George syndrome. A cardiac anomaly was found in 86% of published cases. Interrupted aortic arch (27%), truncus arteriosus (27%) and tetralogy of Fallot (22%) are the most frequent anomalies. Interrupted aortic arch and truncus arteriosus, being rare congenital heart diseases, their discovery in a neonate must lead to a systematic search for Di George syndrome.     

Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

OBJECTIVES: To characterize immunologic function and clinical characteristics in patients with chromosome 22q11.2 deletion syndrome and determine whether there was significant change over time. METHODS: This study characterized the laboratory and clinical features of the immunodeficiency in a cohort of 195 patients with chromosome 22q11.2 deletion syndrome and used cross-sectional and analysis of variance to compare the findings in different age groups with control patients. Changes over time were also characterized by a model effect method in a subset of patients who were studied serially. RESULTS: Diminished T cell counts in the peripheral blood are common in patients with chromosome 22q11.2 deletion syndrome. The pattern of changes seen with aging in normal control patients was also seen in patients with chromosome 22q11.2 deletion syndrome, although the decline in T cells was blunted. Autoimmune disease was seen in most age groups, although the types of disorders varied according to age. Infections were also common in older patients, though they were seldom life threatening. CONCLUSIONS: Slow declines in T cell populations are seen in chromosome 22q11.2 deletion syndrome. Clinical manifestations of immunodeficiency, such as recurrent infection and autoimmune disease, were common in this population but had little relationship to specific immunologic laboratory features.     

Language skills in children with velocardiofacial syndrome (deletion 22q11.2)

OBJECTIVE: To further define the language profile of children with velocardiofacial syndrome (VCFS) and explore the influence of parental origin of the deletion on language. STUDY DESIGN: Children and adolescents with VCFS (n = 27) were group-matched for sex, age, and IQ with 27 children and adolescents with idiopathic developmental delay. Fifty-four typically developing control subjects were also included in the analyses investigating word association abilities. RESULTS: Children with VCFS had significantly lower receptive than expressive language skills, a unique finding when compared with IQ-matched control subjects. However, no significant differences in word association were detected. Children with a deletion of paternal origin score significantly higher on receptive language when compared with children with a deletion of maternal origin. CONCLUSIONS: The Clinical Evaluation of Language Fundamentals-III results suggest that children with VCFS show more severe deficits in receptive than expressive language abilities. Language skills of children with VCFS could be influenced by parental origin of the deletion and thus related to neuroanatomic alterations at the deletion site.