Unilateral pulmonary atresia with total sacral agenesis and other congenital defects

Clinical Dysmorphology

Volumn 13, Issue 1, 2004, Pages 47-48

  Bernbeck, Benedikt ^a   Schürfeld Fürstenberg, Katja ^a   Ketteler, Katharina ^a   Kemperdick, Helmuth ^a   Schroten, Horst ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Congenital defects; Total sacral agenesis; Unilateral pulmonary atresia; VACTERL association

Indexed keywords

ANUS ATRESIA; ARTICLE; CASE REPORT; CAUDAL REGRESSION SYNDROME; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; ELECTROCARDIOGRAPHY; HEART ATRIUM SEPTUM DEFECT; HUMAN; KIDNEY MALFORMATION; LIMB DEFECT; LUNG ATRESIA; MALE; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; SACRUM AGENESIS; SYNDROME VATER; TRACHEOESOPHAGEAL FISTULA; VERTEBRA MALFORMATION; INFANT; LETTER; LIMB MALFORMATION; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; HUMANS; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; PULMONARY ATRESIA; SYNDROME; TRACHEOESOPHAGEAL FISTULA;

EID: 2442701910     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200401000-00014     Document Type: Article

References (5)

1. Cunningham ML, Mann N (1997). Pulmonary agenesis: A predictor of ipsilateral malformations. Am J Med Genet 70:391-398.
2. Evans JA, Greenberg CR, Erdile L (1999). Tracheal agenesis revisited: Analysis of associated anomalies. Am J Med Genet 82:415-422.
3. Knowles S, Thomas RM, Lindenbaum RH, Keeling JW, Winter RM (1988). Pulmonary agenesis as part of the VACTERL sequence. Arch Dis Child 63:723-726.
4. Rittler M, Paz JE, Castilla EE (1997). VACTERL: An epidemiologic analysis of risk factors. Am J Med Genet 73:162-169.
5. Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, et al. (1998.) A homeobox gene HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 20:358-361.