La Sindrome di Rubinstein-Taybi è caratterizzata dalla presenza di anomalie cerebrali associate ad anomalie delle estremità e facies caratteristica.
Le anomalie cerebrali sono: microcefalia, ipoplasia cerebellare o agenesia del corpo calloso.
Le anomalie delle estremità sono: pollici ed alluci grossi ed abdotti.
Le anomalie facciali sono: micrognazia, naso a becco, bocca piccola.
E' presente polidramnios.
Clinicamente vi è un ritardo mentale di grado elevato.
In caso di sopravvivenza si ha tendenza allo sviluppo di neoplasie.
Bibliografia
Baraitser, M., Preece, M. A. The Rubinstein-Taybi syndrome:
occurrence in two sets of identical twins. Clin. Genet. 23: 318-320, 1983. Bartsch, O., Kress, W., Kempf, O., Lechno, S., Haaf, T.,
Zechner, U. Inheritance and variable expression in Rubinstein-Taybi syndrome.
Am. J. Med. Genet. 152A: 2254-2261, 2010. Berry, A. C. Rubinstein-Taybi syndrome. J. Med. Genet. 24:
562-566, 1987. Caksen, H., Bartsch, O., Okur, M., Temel, H., Acikgoz, M.,
Yilmaz, C. Rubinstein-Taybi syndrome and CREBBP c.201_202delTA mutation: a case
presenting with varicella meningoencephalitis. Genet. Counsel. 20: 255-260,
2009. Der Kaloustian, V. M., Afifi, A. K., Sinno, A. A., Mire, J.
The Rubinstein-Taybi syndrome: clinical and muscle electron microscopic study.
Am. J. Dis. Child. 124: 897-902, 1972. Gardner, D. G., Girgis, S. S. Talon cusps: a dental anomaly
in the Rubinstein-Taybi syndrome. Oral Surg. Oral Med. Oral Path. 47: 519-521,
1979. Gillies, D. R. N., Roussounis, S. H. Rubinstein-Taybi
syndrome: further evidence of a genetic aetiology. Dev. Med. Child Neurol. 27:
751-755, 1985. Hennekam, R. C. M. Rubinstein-Taybi syndrome. Europ. J. Hum.
Genet. 14: 981-985, 2006. Hennekam, R. C. M., Lommen, E. J. P., Strengers, J. L. M.,
Van Spijker, H. G., Jansen-Kokx, T. M. G. Rubinstein-Taybi syndrome in a mother
and son. Europ. J. Pediat. 148: 439-441, 1989. Hennekam, R. C. M., Stevens, C. A., Van de Kamp, J. J. P.
Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am. J. Med. Genet.
Suppl. 6: 56-64, 1990. Hennekam, R. C. M., Van den Boogaard, M.-J., Sibbles, B. J.,
Van Spijker, H. G. Rubinstein-Taybi syndrome in the Netherlands. Am. J. Med.
Genet. Suppl. 6: 17-29, 1990. Hennekam, R. C. M., Van Doorne, J. M. Oral aspects of
Rubinstein-Taybi syndrome. Am. J. Med. Genet. Suppl. 6: 42-47, 1990. ajii, T., Hagiwara, K., Tsukahara, M., Nakajima, H., Fukuda,
Y. Monozygotic twins discordant for Rubinstein-Taybi syndrome. J. Med. Genet.
18: 312-314, 1981. Kanjilal, D., Basir, M. A., Verma, R. S., Rajegowda, B. K.,
Lala, R., Nagaraj, A. New dysmorphic features in Rubinstein-Taybi syndrome. J.
Med. Genet. 29: 669-670, 1992. Lacombe, D., Saura, R., Taine, L., Battin, J. Confirmation of
assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. Am. J.
Med. Genet. 44: 126-128, 1992. Levy, N. S. Juvenile glaucoma in the Rubinstein-Taybi
syndrome. J. Pediat. Ophthal. 13: 141-143, 1976. Marion, R. W., Garcia, D. M., Karasik, J. B. Apparent
dominant transmission of the Rubinstein-Taybi syndrome. Am. J. Med. Genet. 46:
284-287, 1993. Miller, R. W., Rubinstein, J. H. Tumors in Rubinstein-Taybi
syndrome Am. J. Med. Genet. 56: 112-115, 1995. Padfield, C. J., Partington, M. W., Simpson, N. E. The
Rubinstein-Taybi syndrome. Arch. Dis. Child. 43: 94-101, 1968. Rubinstein, J. H. Fatherhood of the so-called
Rubinstein-Taybi-syndrome. Am. J. Dis. Child. 128: 424, 1974. Schorry, E. K., Keddache, M., Lanphear, N., Rubinstein, J.
H., Srodulski, S., Fletcher, D., Blough-Pfau, R. I., Grabowski, G. A.
Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am. J. Med.
Genet. 146A: 2512-2519, 2008. Shashi, V., Fryburg, J. S. Vascular ring leading to
tracheoesophageal compression in a patient with Rubinstein-Taybi syndrome. Clin.
Genet. 48: 324-327, 1995. Stef, M., Simon, D., Mardirossian, B., Delrue, M.-A.,
Burgelin, I., Hubert, C., Marche, M., Bonnet, F., Gorry, P., Longy, M.,
Lacombe, D., Coupry, I., Arveiler, B. Spectrum of CREBBP gene dosage anomalies
in Rubinstein-Taybi syndrome patients. Europ. J. Hum. Genet. 15: 843-847, 2007.
Stevens, C. A., Bhakta, M. G. Cardiac abnormalities in the
Rubinstein-Taybi syndrome. Am. J. Med. Genet. 59: 346-348, 1995. Stevens, C. A., Carey, J. C., Blackburn, B. L.
Rubinstein-Taybi syndrome: a natural history study. Am. J. Med. Genet. Suppl.
6: 30-37, 1990. Wiley, S., Swayne, S., Rubinstein, J. H., Lanphear, N. E.,
Stevens, C. A. Rubinstein-Taybi syndrome medical guidelines. Am. J. Med. Genet.
119A: 101-110, 2003.