Biomaterial Database

Facial and immunological anomalies associated with tetralogy of Fallot. 1989

D J Radford, and Y H Thong

Department of Cardiology, Prince Charles Hospital, Queensland, Australia.

Dysmorphic facial features were present in 9 of 31 children with tetralogy of Fallot anatomy (29%). These anomalies included hypertelorism, low-set ears, small mouth, short philtrum, and micrognathia. Ten children had pulmonary atresia, 13 (42%) had a right aortic arch, and 13 had extracardiac congenital anomalies. There were 16 children in the series (52%) who had hospital admissions for important or recurrent infections, and 18 who had immune deficiency: low levels of T lymphocytes were found in 9, low levels of complement in 8, and low immunoglobulins in 3. Embryologically, the cardiac outflow tracts, the aortic arch, the face, and the thymus develop at the same time, and all receive migrating cells from the neural crest. Teratogenic factors possibly produce this constellation of anomalies, which is in the spectrum of the Di George syndrome (third and fourth pharyngeal pouch syndrome). It is of importance for the management of such children, that their immune deficiency be recognized and treated appropriately.

UI	MeSH Term	Description	Entries
D007153	Immunologic Deficiency Syndromes	Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.	Antibody Deficiency Syndrome,Deficiency Syndrome, Immunologic,Deficiency Syndromes, Antibody,Deficiency Syndromes, Immunologic,Immunologic Deficiency Syndrome,Immunological Deficiency Syndromes,Antibody Deficiency Syndromes,Deficiency Syndrome, Antibody,Deficiency Syndrome, Immunological,Deficiency Syndromes, Immunological,Immunological Deficiency Syndrome,Syndrome, Antibody Deficiency,Syndrome, Immunologic Deficiency,Syndrome, Immunological Deficiency,Syndromes, Antibody Deficiency,Syndromes, Immunologic Deficiency,Syndromes, Immunological Deficiency
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007958	Leukocyte Count	The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells.	Blood Cell Count, White,Differential Leukocyte Count,Leukocyte Count, Differential,Leukocyte Number,White Blood Cell Count,Count, Differential Leukocyte,Count, Leukocyte,Counts, Differential Leukocyte,Counts, Leukocyte,Differential Leukocyte Counts,Leukocyte Counts,Leukocyte Counts, Differential,Leukocyte Numbers,Number, Leukocyte,Numbers, Leukocyte
D008297	Male		Males
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004062	DiGeorge Syndrome	Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.	Velocardiofacial Syndrome,22q11.2 Deletion Syndrome,22q11.2DS,Autosomal Dominant Opitz G-Bbb Syndrome,Catch22,Conotruncal Anomaly Face Syndrome,Conotruncal Anomaly Face Syndrome (CTAF),Deletion 22q11.2 Syndrome,DiGeorge Anomaly,DiGeorge Sequence,Familial Third and Fourth Pharyngeal Pouch Syndrome,Hypoplasia of Thymus and Parathyroids,Pharyngeal Pouch Syndrome,Sedlackova Syndrome,Shprintzen Syndrome,Shprintzen VCF Syndrome,Third and Fourth Pharyngeal Pouch Syndrome,Thymic Aplasia Syndrome,VCF Syndrome,Velo-Cardio-Facial Syndrome,Autosomal Dominant Opitz G Bbb Syndrome,Deletion Syndrome, 22q11.2,Syndrome, DiGeorge,Syndrome, Sedlackova,Syndrome, Shprintzen,Syndrome, VCF,Syndrome, Velo-Cardio-Facial,Syndrome, Velocardiofacial,Velo Cardio Facial Syndrome
D005260	Female		Females
D005500	Follow-Up Studies	Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.	Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man