VACTERL association

VACTERL association     OMIM 192350

Segni principali:
polidramnios 
aplasia radio 
atresia esofagea 
anomalie vertebrali (fusione, emivertebre, scoliosi) 
cardiopatie congenite: DIV, Fallot, Traspposizione dei Grossi Vasi 
agenesia renale bilaterale 

Segni aggiuntivi:
polidattilia
fistola tracheo esofagea 
anomalie renali (Reni Policistici, Idronefrosi,...)
anomalie arti (fusione radio ulna, polidattilia )

Note diagnostiche:

E' una sindrome caratterizzata da anomalie a carico di vari organi ed apparati da cui l'acronimo VACTERL: 
V) anomalie Vertebrali (fusione, emivertebre, scoliosi), 
A) anomalie Anali (atresia ano-rettale),
C) Cardiopatie: DIV, Tetralogia di Fallot, Trasposizione dei grossi vasi,
TE) fistola Tracheo Esofagea
R) anomalie Renali: displasia, idronefrosi, ectopia 
L) anomalie arti (Limbs): aplasia radio, fusione radio ulna, polidattilia 

La diagnosi ecografica prenatale è difficoltosa per la eterogeneità delle anomalie presenti; le anomalie che si riscontrano più frequentemente all'esame ecografico sono:
1) scoliosi o emivertebre;
2) atresia esofagea (segni ecografici indiretti: assenza della bolla gastrica + polidramnios);
3) cardiopatie congenite (DIV, Fallot, TGV);
4) anomalie renali (agenesia, idronefrosi); 
5) anomalie degli arti (aplasia del radio).

 Bibliografia

Alter, B. P., Rosenberg, P. S., Brody, L. C. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J. Med. Genet. 44: 1-9, 2007.
Auchterlonie, I. A., White, M. P. Recurrence of the VATER association within a sibship. Clin. Genet. 21: 122-124, 1982.
Castori, M., Rinaldi, R., Cappellacci, S., Grammatico, P. Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association. Am. J. Med. Genet. 146A: 1259-1266, 2008.
Damian, M. S., Seibel, P., Schachenmayr, W., Reichmann, H., Dorndorf, W. VACTERL with the mitochondrial NP 3243 point mutation. Am. J. Med. Genet. 62: 398-403, 1996.
Filippi, G. The syndrome of polydactyly, imperforate anus and vertebral anomalies. Birth Defects Orig. Art. Ser. 8(2): 88-94, 1972.
Finer, N. N., Bowen, P., Dunbar, L. G. Caudal regression anomalad (sacral agenesis) in siblings. Clin. Genet. 13: 353-358, 1978.
Garcia-Barcelo, M.-M., Wong, K. K., Lui, V. C., Yuan, Z., So, M., Ngan, E. S., Miao, X., Chung, P. H., Khong, P., Tam, P. K. Identification of a HOXD13 mutation in a VACTERL patient. Am. J. Med. Genet. 146A: 3181-3185, 2008..]
Hattori, H., Okazaki, S., Higuchi, Y., Yoshibayashi, M., Yamamoto, T. Ectopic bronchus: an insufficiently recognized malformation causing respiratory morbidity in VATER association. Am. J. Med. Genet. 82: 140-142, 1999.
Kaufman, R. L., Quinton, B. A., Ternberg, J. L. Imperforate anus, vertebral anomalies and preaxial limb abnormalities. Birth Defects Orig. Art. Ser. 8(2): 85-87, 1972.
Khoury, M. J., Cordero, J. F., Greenberg, F., James, L. M., Erickson, J. D. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics 71: 815-820, 1983.
Killoran, C. E., Abbott, M., McKusick, V. A., Biesecker, L. G. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. Clin. Genet. 58: 28-30, 2000.
Kim, J. H., Kim, P. C. W., Hui, C. The VACTERL association: lessons from the Sonic hedgehog pathway. Clin. Genet. 59: 306-315, 2001.
Nezarati, M. M., McLeod, D. R. VACTERL manifestations in two generations of a family. Am. J. Med. Genet. 82: 40-42, 1999.
Quan, L., Smith, D. W. The VATER association: vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial dysplasia. Birth Defects Orig. Art. Ser. 8(2): 75-78, 1972.
Say, B., Gerald, P. S. A new polydactyly--imperforate-anus--vertebral-anomalies syndrome? (Letter) Lancet 292: 688 only, 1968. Note: Originally Volume II.
Solomon, B. D., Pineda-Alvarez, D. E., Raam, M. S., Cummings, D. A. T. Evidence for inheritance in patients with VACTERL association. Hum. Genet. 127: 731-733, 2010.