Literature DB >> 7243440

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

M Raatikka, J Rapola, L Tuuteri, I Louhimo, E Savilahti.   

Abstract

A family is presented in which three of four siblings had truncus arteriosus and other anomalies compatible with the third and fourth pharyngeal pouch syndrome (DiGeorge syndrome). The syndrome is uncommon and most of the reported cases have been solitary. In this family an autosomal recessive inheritance is possible.

Entities:  

Mesh：

Year:  1981        PMID： 7243440

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  9 in total

1.  Persistent truncus arteriosus: pathologic anatomy in 54 cases.

Authors:  F Butto; R V Lucas; J E Edwards
Journal:  Pediatr Cardiol       Date:  1986       Impact factor: 1.655

2.  Spectrum of Di George syndrome in patients with truncus arteriosus: expanded Di George syndrome.

Authors:  D J Radford; L Perkins; R Lachman; Y H Thong
Journal:  Pediatr Cardiol       Date:  1988       Impact factor: 1.655

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

Authors:  P D Maaswinkel-Mooij; S E Papapoulos; E J Gerritsen; A H Mudde; J J Van de Kamp
Journal:  Eur J Pediatr       Date:  1989-12       Impact factor: 3.183

4.  Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography.

Authors:  Francesca Gotsch; Roberto Romero; Jimmy Espinoza; Juan Pedro Kusanovic; Offer Erez; Sonia Hassan; Lami Yeo
Journal:  J Matern Fetal Neonatal Med       Date:  2010-04

5.  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

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

Authors:  G R Burgio; A G Ugazio
Journal:  Eur J Pediatr       Date:  1985-05       Impact factor: 3.183

Review 7.  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

8.  Familial DiGeorge syndrome with tetralogy of Fallot and prolonged survival.

Authors:  W E Winter; J H Silverstein; D J Barrett; E Kiel
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

9.  DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

Authors:  D I Wilson; I E Cross; J A Goodship; S Coulthard; A H Carey; P J Scambler; H H Bain; A S Hunter; P E Carter; J Burn
Journal:  Br Heart J       Date:  1991-10
  9 in total

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