Picnodisostose de Maroteaux-Lamy associada a malformações genitais externas: a case report

Gonçalves, Aguinaldo

doi:10.1590/S0004-282X1976000400010

Resumos

É relatado o caso de menina de 7 anos de idade, com picnodisostose de Maroteaux-Lamy associada a malformações urogenitais externas. Tendo em conta o aparente e progressivo aumento dos traços clínicos desta condição, o caso apresentado pode contribuir para a nosografia da mesma; foi feita a coleta e análise dos dermatóglifos, cujos resultados heterodoxos são apresentados e discutidos.

The case of a seven-years-old girl with features of Maroteaux-Lamy's pycnodysostosis associated with external genital envolvement is reported. Considering the apparent and gradual increase of the clinical traits in this condition, this case may represent some contribuition to its nosography. Additionally dermatoglyphs technique and analysis were done which peculiar results are discussed.

Picnodisostose de Maroteaux-Lamy associada a malformações genitais externas

Maroteaux-Lamy's pycnodysostosis associated to external genital anomalies: a case report

Aguinaldo Gonçalves

Médico Geneticista do Conselho Nacional de Desenvolvimento Científico e Tecnológico

RESUMO

É relatado o caso de menina de 7 anos de idade, com picnodisostose de Maroteaux-Lamy associada a malformações urogenitais externas. Tendo em conta o aparente e progressivo aumento dos traços clínicos desta condição, o caso apresentado pode contribuir para a nosografia da mesma; foi feita a coleta e análise dos dermatóglifos, cujos resultados heterodoxos são apresentados e discutidos.

SUMMARY

The case of a seven-years-old girl with features of Maroteaux-Lamy's pycnodysostosis associated with external genital envolvement is reported. Considering the apparent and gradual increase of the clinical traits in this condition, this case may represent some contribuition to its nosography. Additionally dermatoglyphs technique and analysis were done which peculiar results are discussed.

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Full text available only in PDF format.

Laboratório de Genética Médica Faculdade de Medicina, Universidade de São Paulo Caixa Postal 2921 01000 São Paulo, SP Brasil.

1. ANDREN, L. & DYM LING, J.T. Osteoporosis acroosteolytica. A syndrome of osteopetrosis, acroosteolysis and open sutures of the skull. Acta Chir. Scand. 124:496, 1962.
2. CARTER, O. & FAIRBANK, T.A. Pycnodysostosis. In CARTER, O. & FAIRBANK, T.A. The Genetics of Locomotor Diseases. Oxford Monographs on Medical Genetics, 1974, p. 38.
3. LAMY, M. & MAROTEAUX, P. Pycnodysostosis. Proc. III Int. Cong. Hum. Gen. (Baltimore), 1966, p. 455.
4. LANGER, L.O. Mesomelic dwarfism, the hypoplastic ulnar, fibular and mandible type. Radiol. 89:654, 1967.
5. MAROTEAUX, P. & LAMY, M. Deux observations d'une affection osseuse condensante: la pyknodysostosis. Arch. Franc. Pediat. 19:276, 1962.
6. MAROTEAUX, P. & LAMY, M. La pyknodysostosis. Prèsse Méd. 70:999, 1962.
7. MAROTEAUX, P. Une nouvelle dysostose avec elimination urinaire de chondroitine sulfate B. Prèsse Med. 71:1849, 1963.
8. MAROTEAUX, P. Essai de classification des maladies constitutionnelles. Rev. Med. 941, 1964.
9. McKUSICK, V.A. Mendelian Inheritance in Man. John Hopkins Press, Baltimore, 1971.
10. NELSON, W.E. Tratado de Pediatria. Versão castelhana. Salvat Editores, Barcelona, 1971.
11. PREUS, M. & FRASER, F.C. Dermatoglyphcs and syndromes. Amer. J. Dis. Child. 124:933, 1972.
12. SALDANHA, P.H. Dermatoglifos em Genética Médica. Rev. Paul. Med. 72: 173, 1968.
13. SHULER, S.E. Pycnodysostosis. Arch. Dis. Child. 38:620, 1963.
14. SPRANGER, J.W. Mucopolissacharidosis VI (Maroteaux-Lamy's disease). Helv. Paed. Acta. 25:337, 1970.
15. STEVENSON, J.L. Mucopolissacharidosis. In BERSGMA, D. Birth Defects Atlas and Compendium: 640. The National Foundation March of Dimes. New Jersey, 1973.
16. WALSH, R.J. Dystrophic dwarfism. Ill. Med. J. 132:37, 1967.

Datas de Publicação

Publicação nesta coleção
25 Fev 2013
Data do Fascículo
Dez 1976

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

[1] 1. ANDREN, L. & DYM LING, J.T. Osteoporosis acroosteolytica. A syndrome of osteopetrosis, acroosteolysis and open sutures of the skull. Acta Chir. Scand. 124:496, 1962.

[2] 2. CARTER, O. & FAIRBANK, T.A. Pycnodysostosis. In CARTER, O. & FAIRBANK, T.A. The Genetics of Locomotor Diseases. Oxford Monographs on Medical Genetics, 1974, p. 38.

[3] 3. LAMY, M. & MAROTEAUX, P. Pycnodysostosis. Proc. III Int. Cong. Hum. Gen. (Baltimore), 1966, p. 455.

[4] 4. LANGER, L.O. Mesomelic dwarfism, the hypoplastic ulnar, fibular and mandible type. Radiol. 89:654, 1967.

[5] 5. MAROTEAUX, P. & LAMY, M. Deux observations d'une affection osseuse condensante: la pyknodysostosis. Arch. Franc. Pediat. 19:276, 1962.

[6] 6. MAROTEAUX, P. & LAMY, M. La pyknodysostosis. Prèsse Méd. 70:999, 1962.

[7] 7. MAROTEAUX, P. Une nouvelle dysostose avec elimination urinaire de chondroitine sulfate B. Prèsse Med. 71:1849, 1963.

[8] 8. MAROTEAUX, P. Essai de classification des maladies constitutionnelles. Rev. Med. 941, 1964.

[9] 9. McKUSICK, V.A. Mendelian Inheritance in Man. John Hopkins Press, Baltimore, 1971.

[10] 10. NELSON, W.E. Tratado de Pediatria. Versão castelhana. Salvat Editores, Barcelona, 1971.

[11] 11. PREUS, M. & FRASER, F.C. Dermatoglyphcs and syndromes. Amer. J. Dis. Child. 124:933, 1972.

[12] 12. SALDANHA, P.H. Dermatoglifos em Genética Médica. Rev. Paul. Med. 72: 173, 1968.

[13] 13. SHULER, S.E. Pycnodysostosis. Arch. Dis. Child. 38:620, 1963.

[14] 14. SPRANGER, J.W. Mucopolissacharidosis VI (Maroteaux-Lamy's disease). Helv. Paed. Acta. 25:337, 1970.

[15] 15. STEVENSON, J.L. Mucopolissacharidosis. In BERSGMA, D. Birth Defects Atlas and Compendium: 640. The National Foundation March of Dimes. New Jersey, 1973.

[16] 16. WALSH, R.J. Dystrophic dwarfism. Ill. Med. J. 132:37, 1967.