Delleman syndrome in a Brazilian boy

Guion-Almeida, M.L.; Kokitsu-Nakata, N. M.

doi:10.1590/S0100-84551996000400017

Abstract

We report on a Brazilian boy, born to normal and nonconsanguineous parents and presenting facial asymmetry, hypotonia, cerebral anomalies, bilateral anophthalmia, supraorbital cysts, skin tags, cleft lip and palate, micrognatia, glossoptosis, cryptorchidism, and genital hypoplasia.

Delleman syndrome; Brazilian boy

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Delleman syndrome in a Brazilian boy

M.L. Guion-Almeida; N. M. Kokitsu-Nakata

Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Caixa Postal 620, 17043-900 Bauru, SP, Brasil. Telephone: (0142)243177. Fax: (0142) 347818. Send correspondence to M.L.G.-A.

ABSTRACT

We report on a Brazilian boy, born to normal and nonconsanguineous parents and presenting facial asymmetry, hypotonia, cerebral anomalies, bilateral anophthalmia, supraorbital cysts, skin tags, cleft lip and palate, micrognatia, glossoptosis, cryptorchidism, and genital hypoplasia.

Keywords: Delleman syndrome; Brazilian boy.

Al-Gazali, L.I., Donnai, D., Berry, S.A., Say, B. and Mueller, R.F. (1988). The oculocerebrocutaneous (Delleman) syndrome. J. Med. Genet. 25: 773-778.
Bleeker-Wagemakers, L.M., Hamel, B.C.J., Hennekam, R.C. M., Beemer, F.A. and Oorthuys, H.W.E. (1990). Oculocerebrocutaneous syndrome. J. Med. Genet. 27: 69-70.
Brodsky, M.C., Harper, R.A., Keppen, L.D. and Glasier, C.M. (1990). Letter to the Editor: Anophthalmia in Delleman syndrome. Am. J. Med. Genet. 37: 157-158.
De Cock, R. and Merizian, A. (1992). Delleman syndrome: a case report and review. Br. J. Ophthalmol. 76: 115-116.
Delleman, J.W. and Oorthuys, J.W.E. (1981). Orbital cyst in addition to congenital cerebral and focal dermal malformations: A new entity? Clin. Genet. 19: 191-198.
Ferguson, J.W., Hutchison, H.T. and Rouse, B.M. (1984). Ocular, cerebral and cutaneous malformations: confirmation of an association. Clin. Genet. 25: 464-469.
Giorgi, P.L., Gabrielli, O., Catassi, C. and Coppa, G.V. (1989). Oculo-cerebro-cutaneous syndrome: description of a new case. Eur. J. Pediatr. 148: 325-326.
Gorlin, R.J., Cohen Jr., M.M. and Levin, L.S. (1990). Oxford Monographs in Medical Genetics no. 19. Syndromes of the Head and Neck. 3rd edn. Oxford Monograph Press, New York, pp. 511-512.
Happle, R. (1987). Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J. Amer. Acad. Derm. 16: 899-906.
Hoo, J.J., Kapp-Simon, K., Rollnick, B. and Chao, M. (1991). Oculocerebrocutaneous (Delleman) syndrome: A pleiotropic disorder affecting ectodermal tissues with unilateral predominance. Am. J. Med. Genet. 40: 290-293.
Lauras, B., Damon, G., Allard, D., Claudy, A. and Chavrier, Y. (1990). Syndrome oculo-cérébrocutané ou syndrome de Delleman et Oorthuys. Pédiatrie 45: 193-196.
Wilson, R.D., Traverse, L., Hall, J.G., Flodmark, C.O. and Rootman, J. (1985). Oculocerebrocutaneous syndrome. Am. J. Ophthalmol. 99: 142-148.

Publication Dates

Publication in this collection
26 Oct 2006
Date of issue
1996

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] Al-Gazali, L.I., Donnai, D., Berry, S.A., Say, B. and Mueller, R.F. (1988). The oculocerebrocutaneous (Delleman) syndrome. J. Med. Genet. 25: 773-778.

[2] Bleeker-Wagemakers, L.M., Hamel, B.C.J., Hennekam, R.C. M., Beemer, F.A. and Oorthuys, H.W.E. (1990). Oculocerebrocutaneous syndrome. J. Med. Genet. 27: 69-70.

[3] Brodsky, M.C., Harper, R.A., Keppen, L.D. and Glasier, C.M. (1990). Letter to the Editor: Anophthalmia in Delleman syndrome. Am. J. Med. Genet. 37: 157-158.

[4] De Cock, R. and Merizian, A. (1992). Delleman syndrome: a case report and review. Br. J. Ophthalmol. 76: 115-116.

[5] Delleman, J.W. and Oorthuys, J.W.E. (1981). Orbital cyst in addition to congenital cerebral and focal dermal malformations: A new entity? Clin. Genet. 19: 191-198.

[6] Ferguson, J.W., Hutchison, H.T. and Rouse, B.M. (1984). Ocular, cerebral and cutaneous malformations: confirmation of an association. Clin. Genet. 25: 464-469.

[7] Giorgi, P.L., Gabrielli, O., Catassi, C. and Coppa, G.V. (1989). Oculo-cerebro-cutaneous syndrome: description of a new case. Eur. J. Pediatr. 148: 325-326.

[8] Gorlin, R.J., Cohen Jr., M.M. and Levin, L.S. (1990). Oxford Monographs in Medical Genetics no. 19. Syndromes of the Head and Neck. 3rd edn. Oxford Monograph Press, New York, pp. 511-512.

[9] Happle, R. (1987). Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J. Amer. Acad. Derm. 16: 899-906.

[10] Hoo, J.J., Kapp-Simon, K., Rollnick, B. and Chao, M. (1991). Oculocerebrocutaneous (Delleman) syndrome: A pleiotropic disorder affecting ectodermal tissues with unilateral predominance. Am. J. Med. Genet. 40: 290-293.

[11] Lauras, B., Damon, G., Allard, D., Claudy, A. and Chavrier, Y. (1990). Syndrome oculo-cérébrocutané ou syndrome de Delleman et Oorthuys. Pédiatrie 45: 193-196.

[12] Wilson, R.D., Traverse, L., Hall, J.G., Flodmark, C.O. and Rootman, J. (1985). Oculocerebrocutaneous syndrome. Am. J. Ophthalmol. 99: 142-148.