Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Familial DiGeorge syndrome with tetralogy of Fallot and prolonged survival.

Literature DB >> 6698063

Familial DiGeorge syndrome with tetralogy of Fallot and prolonged survival.

W E Winter, J H Silverstein, D J Barrett, E Kiel.

Abstract

Two brothers with DiGeorge syndrome had tetralogy of Fallot with pulmonary valve atresia, illustrating similarity of the type of congenital heart disease (CHD) within affected families; the specific type of CHD differs between families. The late recognition of hypocalcemia in the older brother and his survival to age 21 years emphasizes the need to consider. DiGeorge syndrome in patients of all ages with hypocalcemia and congenital heart disease.

Entities: Disease Species

Mesh：

Year: 1984 PMID： 6698063 DOI： 10.1007/bf00443218

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

12 in total

1. Idiopathic hypoparathyroidism in the newborn. Report of two cases born of diabetic mothers.

Authors: R H KUNSTADTER; W OH; F TANMAN; M CORNBLATH
Journal: Am J Dis Child Date: 1963-05

2. Familial thymic aplasia. Attempted reconstitution with fetal thymus in a Millipore diffusion chamber.

Authors: R W Steele; C Limas; G B Thurman; M Schuelein; H Bauer; J A Bellanti
Journal: N Engl J Med Date: 1972-10-19 Impact factor: 91.245

3. Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch.

Authors: R M Freedom; F S Rosen; A S Nadas
Journal: Circulation Date: 1972-07 Impact factor: 29.690

4. Chronic hypoparathyroidism in two generations.

Authors: D G Barr; A Prader; U Esper; S Rampini; V J Marrian; J O Forfar
Journal: Helv Paediatr Acta Date: 1971-12

5. Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome.

Authors: M Raatikka; J Rapola; L Tuuteri; I Louhimo; E Savilahti
Journal: Pediatrics Date: 1981-02 Impact factor: 7.124

6. A deletion in chromosome 22 can cause DiGeorge syndrome.

Authors: A de la Chapelle; R Herva; M Koivisto; P Aula
Journal: Hum Genet Date: 1981 Impact factor: 4.132

7. Familial thymic aplasia with intrauterine growth retardation and fetal death: a new syndrome or a variant of DiGeorge syndrome.

Authors: M K Shepard; S K Linman; A Cavazos
Journal: Birth Defects Orig Artic Ser Date: 1976

Review 4. Human chromosome 22.

Authors: J C Kaplan; A Aurias; C Julier; M Prieur; M F Szajnert
Journal: J Med Genet Date: 1987-02 Impact factor: 6.318

4 in total

Familial DiGeorge syndrome with tetralogy of Fallot and prolonged survival.

1. Idiopathic hypoparathyroidism in the newborn. Report of two cases born of diabetic mothers.

2. Familial thymic aplasia. Attempted reconstitution with fetal thymus in a Millipore diffusion chamber.

3. Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch.

4. Chronic hypoparathyroidism in two generations.

5. Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome.

6. A deletion in chromosome 22 can cause DiGeorge syndrome.

7. Familial thymic aplasia with intrauterine growth retardation and fetal death: a new syndrome or a variant of DiGeorge syndrome.

8. DiGeorge syndrome associated with multiple squamous cell carcinomas.

9. The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

10. The cardiomyopathy of hypoparathyroidism. Another reversible form of heart muscle disease.

Review 1. Phenotype of adults with the 22q11 deletion syndrome: A review.

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

3. Errors of morphogenesis and inborn errors of immunity 20 years after the discovery of DiGeorge anomaly.

Review 4. Human chromosome 22.