Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central

Carakushansky, Gerson; Machado, Aluizio H. de Andrade

doi:10.1590/S0004-282X1974000200010

Resumos

É relatado um caso de síndrome oral-facial-digital em paciente com anomalias do sistema nervoso central. Os autores fazem um revisão da literatura a procura de outros casos em que tais anomalias também estivessem presentes. A cariotipagem foi normal.

The case of a 3-month-old-female infant with oral-facial-digital malformations is reported. Ventriculogram disclosed widened lateral ventricles with lack of communication with the cisterna magna probably because of congenital defect in the formation of the aqueduct of Sylvius. There was communication with a porencephalic cyst present in the anterior fossa. A review of the literature indicates that porencephalies and hydrocephalus appear to be fairly common malformations associated with the OFD syndrome. Dermatoglyphic studies have shown an excess of whorl patterns on the digits. The karyotype was 46,XX.

Síndrome oral-facial-digital. Relato de um caso com anomalias do sistema nervoso central

Oral-facial-digital syndrome: report of a case with abnormalities of the central nervous system

Gerson Carakushansky^I; Aluizio H. de Andrade Machado^II

^IProfessor-Adjunto e Chefe do Setor de Genética do Instituto de Puericultura da Universidade Federal do Rio de Janeiro

^IINeurocirurgião do Hospital de Ipanema do INPS - GB

RESUMO

É relatado um caso de síndrome oral-facial-digital em paciente com anomalias do sistema nervoso central. Os autores fazem um revisão da literatura a procura de outros casos em que tais anomalias também estivessem presentes. A cariotipagem foi normal.

SUMMARY

The case of a 3-month-old-female infant with oral-facial-digital malformations is reported. Ventriculogram disclosed widened lateral ventricles with lack of communication with the cisterna magna probably because of congenital defect in the formation of the aqueduct of Sylvius. There was communication with a porencephalic cyst present in the anterior fossa. A review of the literature indicates that porencephalies and hydrocephalus appear to be fairly common malformations associated with the OFD syndrome. Dermatoglyphic studies have shown an excess of whorl patterns on the digits. The karyotype was 46,XX.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Setor de Genética Instituto de Puericultura da U.F.R.J. Av. Brigadeiro Trompowsky Ilha Universitária 20000 Rio de Janeiro. GB Brasil.

1. CO-TE, P.; DOLMAN, C.L.; TISCHLER, B. & LOWRY, R.B. Oral-facial-digital syndrome. A case with necropsy findings. Am. J. Dis. Child. 119:280, 1970.
2. DOEGE, T.C.; CAMPBELL, M.M.; BRYANT, J.S. & THULINE, H.C. Mental retardation and dermatoglyphics in a family with the oral-facial-digital syndrome. Am. J. Dis. Child. 116:615, 1968.
3. GORLIN, R.J.; ANDERSON, V.E. & SCOTT, C.R. Hypertrophied frenuli, oligophrenia, familial trembling and anomalies of the hand. New England J. Med. 264:486, 1961.
4. KUSHNICK, T.; MASSA, T. & BAUKEMA, R. Orofaciodigital síndrome in a male. J. Pediat. 63:1130, 1963.
5. MANDELL, F.; OGRA, P.L.; HORIWITZ, S.L. & HIRSCHHORN, K. Oral-facial-digital síndrome in a chromosomally normal male. Pediatrics 40:63, 1967.
6. PAPILLON-LÉAGE, Mme. & PSAUME, J. Une malformation héreditaire de la muqulese buccale, brides et freins anormaux. Rev. Stomatol. Chir. Maxillofac. 55:209, 1954.
7. REISNER, S.H.; KOTT, E.; BORNSTEIN, B.; SALINGER, H.; KAPLAN, I. & GORLIN, R.J. Oculodentodigital dysplasia. Am. J. Dis. Child., 118:600, 1969.
8. RIMOIN, D.L. & EDGERTON, M.T. Genetic and clinical heterogeneity in the oral-facial-digital syndromes J. Pediatr. 71:94, 1967.
9. RUESS, A.L.; PRUZANSKY, S.; LIS, E.F. & PATAU, K. The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities. Pediatrics 29:985, 1962.
10. SCHWARTZ, E. & FISH, A. Roentgenographs features of a new congenital dysplasia. Amer. J. Roentgen. 84:511, 1960.
11. TUCKER, C.C. & ANDERSON, V.E. Oral-facial-digital syndrome with polycystic kidneys and liver: pathological and cytogetic studies. J. Med. Genet. 3:145, 1966.
12. WAHRMAN, J.; BERANTI, M.; JACOBS, J.; AVIAD, L. & BEN-HUR, N. The oral-facial-digital syndrome. A male lethal condition in a boy with 47XXY chromosomes. Pediatrics 37:812, 1966.

Datas de Publicação

Publicação nesta coleção
16 Abr 2013
Data do Fascículo
Jun 1974

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

[1] 1. CO-TE, P.; DOLMAN, C.L.; TISCHLER, B. & LOWRY, R.B. Oral-facial-digital syndrome. A case with necropsy findings. Am. J. Dis. Child. 119:280, 1970.

[2] 2. DOEGE, T.C.; CAMPBELL, M.M.; BRYANT, J.S. & THULINE, H.C. Mental retardation and dermatoglyphics in a family with the oral-facial-digital syndrome. Am. J. Dis. Child. 116:615, 1968.

[3] 3. GORLIN, R.J.; ANDERSON, V.E. & SCOTT, C.R. Hypertrophied frenuli, oligophrenia, familial trembling and anomalies of the hand. New England J. Med. 264:486, 1961.

[4] 4. KUSHNICK, T.; MASSA, T. & BAUKEMA, R. Orofaciodigital síndrome in a male. J. Pediat. 63:1130, 1963.

[5] 5. MANDELL, F.; OGRA, P.L.; HORIWITZ, S.L. & HIRSCHHORN, K. Oral-facial-digital síndrome in a chromosomally normal male. Pediatrics 40:63, 1967.

[6] 6. PAPILLON-LÉAGE, Mme. & PSAUME, J. Une malformation héreditaire de la muqulese buccale, brides et freins anormaux. Rev. Stomatol. Chir. Maxillofac. 55:209, 1954.

[7] 7. REISNER, S.H.; KOTT, E.; BORNSTEIN, B.; SALINGER, H.; KAPLAN, I. & GORLIN, R.J. Oculodentodigital dysplasia. Am. J. Dis. Child., 118:600, 1969.

[8] 8. RIMOIN, D.L. & EDGERTON, M.T. Genetic and clinical heterogeneity in the oral-facial-digital syndromes J. Pediatr. 71:94, 1967.

[9] 9. RUESS, A.L.; PRUZANSKY, S.; LIS, E.F. & PATAU, K. The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities. Pediatrics 29:985, 1962.

[10] 10. SCHWARTZ, E. & FISH, A. Roentgenographs features of a new congenital dysplasia. Amer. J. Roentgen. 84:511, 1960.

[11] 11. TUCKER, C.C. & ANDERSON, V.E. Oral-facial-digital syndrome with polycystic kidneys and liver: pathological and cytogetic studies. J. Med. Genet. 3:145, 1966.

[12] 12. WAHRMAN, J.; BERANTI, M.; JACOBS, J.; AVIAD, L. & BEN-HUR, N. The oral-facial-digital syndrome. A male lethal condition in a boy with 47XXY chromosomes. Pediatrics 37:812, 1966.