Picnodisostose: registro de dois casos na mesma família

Reimão, Rubens N. A. de A.; Diament, Aron J.

doi:10.1590/S0004-282X1979000400007

Resumos

São relatados dois casos típicos de picnodisostose ocorrendo na mesma família. São discutidos os achados clínicos, radiológicos e laboratoriais.

Two new cases of pycnodysostosis occurring in the same family are reported. Clinical, roentgenographic and laboratory findings are discussed.

Picnodisostose: registro de dois casos na mesma família

Pycnodysostosis: report of two cases in the same family

Rubens N. A. de A. Reimão^I; Aron J. Diament^II

^IMédico residente. Clínica Neurológica do Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo

^IILivre Docente. Clínica Neurológica do Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo

RESUMO

São relatados dois casos típicos de picnodisostose ocorrendo na mesma família. São discutidos os achados clínicos, radiológicos e laboratoriais.

SUMMARY

Two new cases of pycnodysostosis occurring in the same family are reported. Clinical, roentgenographic and laboratory findings are discussed.

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Trabalho da Clínica Neurológica do Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo.

Clinica Neurológica - Hospital das Clinicas - Caixa Postal 3+61 - 01OX) São Paulo, BP - Brasil.

1. ABBOUD, M. A.; ABDIN, Z. H. & ALFY, O. - Albers-Schonberg disease: report of two cases in an egyptian family. Pediat. 71:131, 1954.
2. ALMEIDA, L. M. de - A genetic study of pycnodysostosis. Ann. Genet (Paris) 15:99, 1972.
3. AMLA, I.; BASAVARAJU, S. & MANIKYARAJU, V. - Pycnodysostosis: report of a case with platybasia and pyramidal tract signs. Indian J. Pediat. 40:66, 1973.
4. CHANDRASEKCHAR, K. P. - Pycnodysostosis: a case report. J. Assoc. Physic. India 20:867, 1972.
5. DUSENBERRY, J. F. & KANE, J. J. - Pycnodysostosis: report of three new cases. Am. J. Roentgenol. 99:717, 1967.
6. ELMORE, S. M. - Pycnodysostosis: a review. J. Bone Joint Surg. 49-A: 157, 1967.
7. ELMORE, S. M.; NANCE, W. E.; McGREEN, B. J.; EMGEL-de MONTNOLLIN, M. & ENGEL, E. - Pycnodysostosis, with a familial chromossome anomaly. Am. J. Med. 40:273, 1966.
8. EMANI-AHARI, Z.; ZARABI, M. & JAVID-SHIRAZ, B. - Pycnodysostosis. J. Bone Joint Surg. 51-B: 307, 1969.
9. GIACCAI, L.; SALAAM, M. & ZELLWEGER, H. - Cleidocranial dysostosis with osteopetrosis. Acta Radiol. 41:417, 1954.
10. GIEDION, A. & ZACHMANN, M. - Pycnodysostosis. Helv. Paediat. Acta. 21:612, 1966.
11. GROSSEREZ, M.; TREHEUX, A.; STRICKER, M. & METZ, R. - Une nouvelle observation de pycnodysostose. J. Radiol. Electr. 47:446, 1966.
12. GRÜNEBATJM, M. & LANDAU, B. - Pycnodysostosis. Brit. J. Radiol. 41:359, 1968.
13. HOLMES, L. B.; MOSER, H. W.; HALLDORSSON, 8.; MACK, C; PANT, S. S. & MATZILEVICH, B. - Mental Retardation. The MacMillan Co., New York 1972, pp. 8-9.
14. KRABBE, K. H. - Les formes atypiques de la dysostose cleidocranienne (dysostose cranienne sans dysostose claviculaire). Folia Psychiatr. Neurol. Neurochir. Neerlandica 53:328, 1950.
15. LACEY, S. H.; EYRING, E. J. & SCHAFFER, T. E. - Pycnodysostosis: a case report of child with associated trissomy X. J. Pediat. 77:1033, 1970.
16. LENTLE, B. C. - Pycnodysostosis: a case report. J. Canad. Assoc. Radiol. 22:210, 1971.
17. LIEVRE, J. A.; CHAPUT, A. & CAMUS, J. P. - Pycnosostose de Maroteaux et Lamy (une observation). Rev. Rhumatisme 31:282, 1964.
18. MAROTEAUX, P. & LAMY, M. - Deux observations d'une affection osaeuse condensante: la pycnodysostose. Arch. Fr. Pediat. 19:267, 1962.
19. MAROTEAUX, P. & LAMY, M. - La pycnodysostose. Prèsse Méd. 70:999, 1962.
20. MEMIN, Y.; HILTENBRAND, C; GIUDICBLLI, C. & PAPILLAUD, J. - Une maladie rare: la pycnodysostose. Prèsse Méd. 78:508, 1970.
21. McKUSICK, V. A. - Generalizei genetic disorders of osseous skeleton (editorial) J.A.M.A. 191:754, 1965.
22. NIELSEN, E. L. - Pycnodysostoses: review and report of 6 cases. Ugeskr. Laeger. (Copenhagen) 135:2093, 1973.
23. PALMER, P. E. S. & THOMAS, J. E. P. - Case reports: osteopetrosis with unusual changes in the skull and digits. British J. Radiol. 31:705, 1958.
24. PALMER, P. E. S. - Case reports: Osteopetrosis with multiple epiphyseal dysplasia. British J. Radiol. 33:456, 1960.
25. PIERA, E.; GONZALEZ, T.; FUENMAYOR GIMENEZ, T. de; SOLER RAMON, J. & FIGUBROLA PINO, P. - Picnodisostosis (A propósito de una observación). Rev. Clin. Esp. 122:443, 1971.
26. ROCA, J. - Osteosclerosis y disostosis craneal. Prensa Med. Argentina 44:1875, 1975.
27. SARNSETHSIRI, P.; HITT, O. K.; EYRING, E. J. & FROST, H. M. - Tetra-zycline-baeed study of bone dynamics in pycnodysostosis. Clin. Orthop. 74:301, 1971.
28. SARROUY, Ch.; GILLOT, R.; SANDRA, L.; LEGEAIS, G. & FAROUZ, S. - Deux cas d'osteopetrose essentielle dans une même fratrie. Prèsse Méd. 65:1692, 1957.
29. SCHULLER, S. - Pycnodysostose. Arch. Dis. Child. 38:620, 1963.
30. SEDANO, H. D.; GORLIN, R. J.; ANDERSON, V. E. - Pycnodysostosis: Clinical and genetic considerations. Amer. J. Dis. Child. 116:60, 1968.
31. SEIGMAN, E. L. & KILBY, W. L. - Osteopetrosis: report of a case and review of recent literature. Am. J. Roentgenol. 63:865, 1950.
32. SHIRAISHI, S. - Pycnodysostosis (dysostosis petrosans). Acta Orthop. Scand. 42:227, 1971.
33. SJÖLIN, K. E. - Gargoilism: forme frustre. Acta Paediat. 40:165, 1951.
34. THOMSEN, G. & GUTTADAURO, M. - Cleidocranial dysostosis associated with osteoclerosis and bone fragility. Acta Radiol. 37:559, 1952.
35. WEISSMANN-NETTER, R. & LORCH, P. - Nanisme familial avec densification generalisée du squelette et dysgenesis polytopiques. Sem. des Hôpitaux de Paris 32:2713, 1956.

Datas de Publicação

Publicação nesta coleção
22 Ago 2012
Data do Fascículo
Dez 1979

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

[1] 1. ABBOUD, M. A.; ABDIN, Z. H. & ALFY, O. - Albers-Schonberg disease: report of two cases in an egyptian family. Pediat. 71:131, 1954.

[2] 2. ALMEIDA, L. M. de - A genetic study of pycnodysostosis. Ann. Genet (Paris) 15:99, 1972.

[3] 3. AMLA, I.; BASAVARAJU, S. & MANIKYARAJU, V. - Pycnodysostosis: report of a case with platybasia and pyramidal tract signs. Indian J. Pediat. 40:66, 1973.

[4] 4. CHANDRASEKCHAR, K. P. - Pycnodysostosis: a case report. J. Assoc. Physic. India 20:867, 1972.

[5] 5. DUSENBERRY, J. F. & KANE, J. J. - Pycnodysostosis: report of three new cases. Am. J. Roentgenol. 99:717, 1967.

[6] 6. ELMORE, S. M. - Pycnodysostosis: a review. J. Bone Joint Surg. 49-A: 157, 1967.

[7] 7. ELMORE, S. M.; NANCE, W. E.; McGREEN, B. J.; EMGEL-de MONTNOLLIN, M. & ENGEL, E. - Pycnodysostosis, with a familial chromossome anomaly. Am. J. Med. 40:273, 1966.

[8] 8. EMANI-AHARI, Z.; ZARABI, M. & JAVID-SHIRAZ, B. - Pycnodysostosis. J. Bone Joint Surg. 51-B: 307, 1969.

[9] 9. GIACCAI, L.; SALAAM, M. & ZELLWEGER, H. - Cleidocranial dysostosis with osteopetrosis. Acta Radiol. 41:417, 1954.

[10] 10. GIEDION, A. & ZACHMANN, M. - Pycnodysostosis. Helv. Paediat. Acta. 21:612, 1966.

[11] 11. GROSSEREZ, M.; TREHEUX, A.; STRICKER, M. & METZ, R. - Une nouvelle observation de pycnodysostose. J. Radiol. Electr. 47:446, 1966.

[12] 12. GRÜNEBATJM, M. & LANDAU, B. - Pycnodysostosis. Brit. J. Radiol. 41:359, 1968.

[13] 13. HOLMES, L. B.; MOSER, H. W.; HALLDORSSON, 8.; MACK, C; PANT, S. S. & MATZILEVICH, B. - Mental Retardation. The MacMillan Co., New York 1972, pp. 8-9.

[14] 14. KRABBE, K. H. - Les formes atypiques de la dysostose cleidocranienne (dysostose cranienne sans dysostose claviculaire). Folia Psychiatr. Neurol. Neurochir. Neerlandica 53:328, 1950.

[15] 15. LACEY, S. H.; EYRING, E. J. & SCHAFFER, T. E. - Pycnodysostosis: a case report of child with associated trissomy X. J. Pediat. 77:1033, 1970.

[16] 16. LENTLE, B. C. - Pycnodysostosis: a case report. J. Canad. Assoc. Radiol. 22:210, 1971.

[17] 17. LIEVRE, J. A.; CHAPUT, A. & CAMUS, J. P. - Pycnosostose de Maroteaux et Lamy (une observation). Rev. Rhumatisme 31:282, 1964.

[18] 18. MAROTEAUX, P. & LAMY, M. - Deux observations d'une affection osaeuse condensante: la pycnodysostose. Arch. Fr. Pediat. 19:267, 1962.

[19] 19. MAROTEAUX, P. & LAMY, M. - La pycnodysostose. Prèsse Méd. 70:999, 1962.

[20] 20. MEMIN, Y.; HILTENBRAND, C; GIUDICBLLI, C. & PAPILLAUD, J. - Une maladie rare: la pycnodysostose. Prèsse Méd. 78:508, 1970.

[21] 21. McKUSICK, V. A. - Generalizei genetic disorders of osseous skeleton (editorial) J.A.M.A. 191:754, 1965.

[22] 22. NIELSEN, E. L. - Pycnodysostoses: review and report of 6 cases. Ugeskr. Laeger. (Copenhagen) 135:2093, 1973.

[23] 23. PALMER, P. E. S. & THOMAS, J. E. P. - Case reports: osteopetrosis with unusual changes in the skull and digits. British J. Radiol. 31:705, 1958.

[24] 24. PALMER, P. E. S. - Case reports: Osteopetrosis with multiple epiphyseal dysplasia. British J. Radiol. 33:456, 1960.

[25] 25. PIERA, E.; GONZALEZ, T.; FUENMAYOR GIMENEZ, T. de; SOLER RAMON, J. & FIGUBROLA PINO, P. - Picnodisostosis (A propósito de una observación). Rev. Clin. Esp. 122:443, 1971.

[26] 26. ROCA, J. - Osteosclerosis y disostosis craneal. Prensa Med. Argentina 44:1875, 1975.

[27] 27. SARNSETHSIRI, P.; HITT, O. K.; EYRING, E. J. & FROST, H. M. - Tetra-zycline-baeed study of bone dynamics in pycnodysostosis. Clin. Orthop. 74:301, 1971.

[28] 28. SARROUY, Ch.; GILLOT, R.; SANDRA, L.; LEGEAIS, G. & FAROUZ, S. - Deux cas d'osteopetrose essentielle dans une même fratrie. Prèsse Méd. 65:1692, 1957.

[29] 29. SCHULLER, S. - Pycnodysostose. Arch. Dis. Child. 38:620, 1963.

[30] 30. SEDANO, H. D.; GORLIN, R. J.; ANDERSON, V. E. - Pycnodysostosis: Clinical and genetic considerations. Amer. J. Dis. Child. 116:60, 1968.

[31] 31. SEIGMAN, E. L. & KILBY, W. L. - Osteopetrosis: report of a case and review of recent literature. Am. J. Roentgenol. 63:865, 1950.

[32] 32. SHIRAISHI, S. - Pycnodysostosis (dysostosis petrosans). Acta Orthop. Scand. 42:227, 1971.

[33] 33. SJÖLIN, K. E. - Gargoilism: forme frustre. Acta Paediat. 40:165, 1951.

[34] 34. THOMSEN, G. & GUTTADAURO, M. - Cleidocranial dysostosis associated with osteoclerosis and bone fragility. Acta Radiol. 37:559, 1952.

[35] 35. WEISSMANN-NETTER, R. & LORCH, P. - Nanisme familial avec densification generalisée du squelette et dysgenesis polytopiques. Sem. des Hôpitaux de Paris 32:2713, 1956.