110 VATER Association
VATER Association 929
VACTERL association included
Vertebral defects, anal malformation, tracheoeso- phageal fistula, esophageal atresia, radial dysplasia, renal anomalies
Frequency: 1 in 3,500 births.
Genetics
Most cases sporadic, a few familial cases (OMIM 192350).
Clinical Features
• Pre- and post-natal growth deficiency
• Tracheoesophageal fistula, pulmonary hypoplasia
• Esophageal, duodenal, anal atresia
• Renal anomalies, urogenital defects
• Single umbilical artery
• Humeral hypoplasia, radial dysplasia, proximally placed thumb
• Cardiac defects (ventricular septal defect), limb defects (VACTERL)
Differential Diagnosis
• Fanconi anemia
• VACTERL association with hydrocephalus is a dis- tinct disorder (OMIM 276950, 314390)
• Townes-Brocks syndrome
• Holt-Oram syndrome
Radiographic Features Spine
• Vertebral aplasia, dysplasia, hypoplasia, hemiver- tebrae, sacral deformity (70%)
• Scoliosis Limbs
• Radial dysplasia, radial ray hypoplasia (including thumb hypoplasia)
• Preaxial polydactyly
• Hypoplasia of the humerus
• Radioulnar synostosis
• Midline anomalies of the hand and foot
• Clinodactyly, syndactyly
• Hypoplastic middle phalanx of the 5th finger
• Malposition of the digits
• Triphalangeal thumb
• Defects of lower limbs (23%)
Chest
• Rib anomalies, hypersegmentation (13–14 ribs and/or thoracic vertebrae; 6–7 lumbar vertebrae)
• Sternal anomalies
• Sprengel deformity Pelvis
• Absent pubis Skull
• Choanal atresia
• Cleft palate
Bibliography
Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens LM, Lancaster PA, Martinez-Frias ML, Merlob P, Ruusinen A, Stoll C, Sumiyoshi Y. The spectrum of congenital anomalies of the VATER association: an interna- tional study. Am J Med Genet 1997; 71: 8–15
Brons JT, van der Harten HJ, van Geijn HP, Wladimiroff JW, Niermeijer MF, Lindhout D, Stuart PA, Meijer CJ, Arts NF.
Prenatal ultrasonographic diagnosis of radial-ray reduc- tion malformations. Prenat Diagn 1990; 10: 279–88 Canepa G, Maroteaux P, Pietrogrande V. Sindromi dismorfiche
e malattie costituzionali dello scheletro. Piccin, Padova, 1996
Evans JA, Greenberg CR, Erdile L. Tracheal agenesis revisited:
analysis of associated anomalies. Am J Med Genet 1999; 82:
415–22
Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics 1983; 71: 815–20 Lomas FE, Dahlstrom JE, Ford JH. VACTERL with hydro-
cephalus: family with X-linked VACTERL-H. Am J Med Genet 1998; 76: 74–8
Martinez-Frias ML, Frias JL. VACTERL as primary, polytopic developmental field defects. Am J Med Genet 1999; 83: 13–6 Nezarati MM, McLeod DR. VACTERL manifestations in two
generations of a family. Am J Med Genet 1999; 82: 40–2 Obregon MG. Horseshoe lung: an additional component of the
Vater association. Pediatr Radiol 1992; 22: 158
Quan L, Smith DW. The VATER association: vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial dysplasia. Birth Defects Orig Art Ser 1972; 8:
75–8
Weaver DD, Mapstone CL, Yu P. The VATER association: analy- sis of 46 patients. Am J Dis Child 1986; 140: 225–9 Wulfsberg EA, Phillips-Dawkins TL, Thomas RL. Vertebral hy-
persegmentation in a case of the VATER association. Am J Med Genet 1992; 42: 766–70
V
VATER Association 930
Fig. 110.1 a, b. Patient 1, newborn.
Vertebral segmentation defects in upper thoracic spine, resulting in scoliosis, and rib anomalies. Pubic rami are not ossified. b Lateral inverted plain film, showing in- testinal gas terminating well above anal skin (identified by a radiopaque marker), thus sug- gesting anorectal malformation.
(Reprinted, with permission, from Canepa et al. 1996)
a b
Fig. 110.2 a, b. Patient 1, newborn.
aNote absent radius and thumb and radially deviated right hand.
b Mild hypoplasia of thumb.
(Reprinted, with permission, from Canepa et al. 1996)
a b
