Caudal duplication syndrome with unilateral hypoplasia of the pelvis and lower limb and ventriculoseptal heart defect in a mother and features of VATER association in her child

Clinical Dysmorphology

Volumn 18, Issue 3, 2009, Pages 139-141

  Becker, Kristin ^a,b   Howard, Karol ^a   Klazinga, Derek ^a   Hall, Christine M ^c  

^a GLAN CLWYD HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Caudal duplication syndrome; Tracheooesophageal fistula; VATER association

Indexed keywords

ABDOMINAL RADIOGRAPHY; ADULT; ANUS ATRESIA; ARTICLE; BABY; BIRTH; CASE REPORT; CAUDAL DUPLICATION SYNDROME; CESAREAN SECTION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COLOSTOMY; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; DOMINANT INHERITANCE; ESOPHAGUS FISTULA; FEMALE; GENETIC ASSOCIATION; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOPLASIA; HYPOSPADIAS; INFANT; INTESTINE DUPLICATION; LIMB; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PELVIS; PRIORITY JOURNAL; RENOGRAPHY; SKELETON MALFORMATION; SOLITARY KIDNEY; SYNDROME VATER; TRACHEOESOPHAGEAL FISTULA; UTERUS; VAGINA;

ABNORMALITIES, MULTIPLE; ADULT; FEMALE; HEART SEPTAL DEFECTS; HUMANS; LEG; PELVIS; SYNDROME;

EID: 67849092007     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32832d0703     Document Type: Article

References (3)

1. Dominguez R, Rott J, Castillo M, Pittaluga RR, Corriere JN (1993). Causal duplication syndrome. Am J Dis Child 147:1048-1052.
2. Kroes HY, Takahasi M, Zijlstra RJ, Baert JALL, Kooi KA, Hofstra RMW, van Essen AJ (2002). Two cases of the caudal duplication anomaly including a discordant monozygotic twin. Am J Med Genet 112:390-393.
3. Oates NA, van Vliet J, Duffy DL, Kroes HY, Martin NG, Boomsma DI, et al. (2006). Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. Am J Hum Genet 79:155-162.