Schilbach-Rott Syndrome and its management

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Schilbach-Rott Syndrome and its management

Author Affiliations

¹ Department of Plastic Surgery, JIPMER, Pondicherry, INDIA

Int. Res. J. Medical Sci., Volume 2, Issue (12), Pages 19-20, December,28 (2014)

Abstract

Schilbach-Rott Syndrome is a rare syndrome characterised by bycleft palate, ocular hypotelorism, hypospadias in males,blepharophimosis, upslant of palpebral fissures, and a tendency to cutaneous syndactyly of 3rd and 4th fingers as well as 2nd and 3rd toes. Here we are reporting the case with features resembling Schilbach-Rott syndrome and its management.

References

Venkatesh R., Syndromes and anomalies associated with cleft, Indian J Plast Surg., 42(Suppl), S51–S55 (2009)
Schilbach U, Rott H.D., Neri G. and Reynolds JF., Ocular hypotelorism, submucosal cleft palate, and hypospadias: A new autosomal dominant syndrome, Am. J. Med. Genet., 31, 863–870 (1988)
Becerra-Solano L.E., Casillas-Avila M.P., Diaz-Rodriguez M., Nastasi-Catanese J.A., Toscano-Flores J.J. and Ramirez-Duenas M.L, Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait, Genet. Counsel., 18, 317-323 (2007)
De Carvalho D.R., Rossi N.F., Schellini S., MorettiFerreira D. and Richieri-Costa A., Schilbach-Rottble pharo facioskeletal syndrome in a Brazilian patient, Am. J. Med. Genet., 146A, 2134-2137 (2008)
Shkalim V., Baris H.N., Gal G., Gleiss R., Calderon S., Wessels M., Maat-Kievit A., Menten B., De Baere E., Hennekam R.C.M., Schirmacher A., Bale S., Shohat M.and Willems P.J., Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome, Am. J. Med. Genet., 149A, 2700-2705 (2009)
Joss S.K., Paterson W., Donaldson M.D.C. and Tolmie J.L., Cleft palate, hypotelorism and hypospadias : Schilbach-Rott syndrome, Am. J. Med. Genet., 113, 105-107 (2002)

[ref1] Venkatesh R., Syndromes and anomalies associated with cleft, Indian J Plast Surg., 42(Suppl), S51–S55 (2009)

[ref2] Schilbach U, Rott H.D., Neri G. and Reynolds JF., Ocular hypotelorism, submucosal cleft palate, and hypospadias: A new autosomal dominant syndrome, Am. J. Med. Genet., 31, 863–870 (1988)

[ref3] Becerra-Solano L.E., Casillas-Avila M.P., Diaz-Rodriguez M., Nastasi-Catanese J.A., Toscano-Flores J.J. and Ramirez-Duenas M.L, Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait, Genet. Counsel., 18, 317-323 (2007)

[ref4] De Carvalho D.R., Rossi N.F., Schellini S., MorettiFerreira D. and Richieri-Costa A., Schilbach-Rottble pharo facioskeletal syndrome in a Brazilian patient, Am. J. Med. Genet., 146A, 2134-2137 (2008)

[ref5] Shkalim V., Baris H.N., Gal G., Gleiss R., Calderon S., Wessels M., Maat-Kievit A., Menten B., De Baere E., Hennekam R.C.M., Schirmacher A., Bale S., Shohat M.and Willems P.J., Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome, Am. J. Med. Genet., 149A, 2700-2705 (2009)

[ref6] Joss S.K., Paterson W., Donaldson M.D.C. and Tolmie J.L., Cleft palate, hypotelorism and hypospadias : Schilbach-Rott syndrome, Am. J. Med. Genet., 113, 105-107 (2002)