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Metaphyseal and Epiphyseal Dysplasia With Unusual Facies and Cataract

Metaphyseal and Epiphyseal Dysplasia With Unusual Facies and Cataract Abstract A 10-year-old girl with low birthweight dwarfism, slow growth and mental development, peculiar facies, bilateral cataract, mental retardation, and the radiographic changes of metaphyseal and epiphyseal bone dysplasia is described. We suggest that this case may represent a new, hitherto undescribed, syndrome. References 1. Kozlowski K: Etude radiologique d'un cas de nanisme senile (progeria) . Ann Radiol 8:92-96, 1965. 2. Epstein CJ, et al: Werner's syndrome: A review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process . Medicine 45:177-221, 1966. 3. Macdonald WB, Fitch KD, Levis IC: Cockayne's syndrome: Heredofamilial disorder of growth and development . Pediatrics 25:997-1007, 1960. 4. Choremis KB, Constandinides B, Kattamis A: Congenital type of generalised lipodystrophy . Acta Paediatr Scand 54:175-179, 1965.Crossref 5. Kallo A, Lakatos I, Szijarto L: Leprechaunism (Donohue's syndrome) . J Pediatr 66:372-379, 1965.Crossref 6. Kuhlkamp F, Helwig H: Das Krankheitsbild des Kongenitalen Dysendokrinismus oder Leprechaunismus . Z Kinderheilkd 109:50-63, 1970.Crossref 7. Summit RL, Favara BE: Leprechaunismus (Donohue's syndrome): A case report . J Pediatr 74:601-610, 1969.Crossref 8. Brocher JEW, et al: Röntgenologische Befunde bei Geroderma Osteodysplastica Hereditaria . Fortschr Geb Roentgenstr Nuklearmed 109:185-193, 1968.Crossref 9. Hajjar BA, Joyner EN: Congenital cutis laxa with advanced cardio-pulmonary disease . J Pediatr 73:116-119, 1968.Crossref 10. Reisner SH, Seelenfreund H, Ben-Bassat M: Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip . Acta Paediatr Scand 60:357-360, 1971.Crossref 11. Barsy AM de, Moens E, Dierclex L: Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea: A new syndrome? Helv Paediatr Acta 23:305-308, 1968. 12. Lamy M, et al: L'acrogeria . Arch Fr Pediatr 18:1-8, 1961. 13. Wiedemann HR: Uber einige Progeroide Krankheitsbilder und denen Diagnostische Einordnung . Z Kinderheilk 107:91-106, 1969.Crossref 14. Lamy M, Maroteaux P: Les Chondrodystrophies Genotypiques . Paris, L'expansion Scientifique Francaise, 1960. 15. Kozlowski K, Budzinska A: Combined metaphyseal and epiphyseal dysostosis . Am J Roentgenol Radium Ther Nucl Med 91:602-608, 1964. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Metaphyseal and Epiphyseal Dysplasia With Unusual Facies and Cataract

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References (21)

Publisher
American Medical Association
Copyright
Copyright © 1973 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1973.04160040057012
Publisher site
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Abstract

Abstract A 10-year-old girl with low birthweight dwarfism, slow growth and mental development, peculiar facies, bilateral cataract, mental retardation, and the radiographic changes of metaphyseal and epiphyseal bone dysplasia is described. We suggest that this case may represent a new, hitherto undescribed, syndrome. References 1. Kozlowski K: Etude radiologique d'un cas de nanisme senile (progeria) . Ann Radiol 8:92-96, 1965. 2. Epstein CJ, et al: Werner's syndrome: A review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process . Medicine 45:177-221, 1966. 3. Macdonald WB, Fitch KD, Levis IC: Cockayne's syndrome: Heredofamilial disorder of growth and development . Pediatrics 25:997-1007, 1960. 4. Choremis KB, Constandinides B, Kattamis A: Congenital type of generalised lipodystrophy . Acta Paediatr Scand 54:175-179, 1965.Crossref 5. Kallo A, Lakatos I, Szijarto L: Leprechaunism (Donohue's syndrome) . J Pediatr 66:372-379, 1965.Crossref 6. Kuhlkamp F, Helwig H: Das Krankheitsbild des Kongenitalen Dysendokrinismus oder Leprechaunismus . Z Kinderheilkd 109:50-63, 1970.Crossref 7. Summit RL, Favara BE: Leprechaunismus (Donohue's syndrome): A case report . J Pediatr 74:601-610, 1969.Crossref 8. Brocher JEW, et al: Röntgenologische Befunde bei Geroderma Osteodysplastica Hereditaria . Fortschr Geb Roentgenstr Nuklearmed 109:185-193, 1968.Crossref 9. Hajjar BA, Joyner EN: Congenital cutis laxa with advanced cardio-pulmonary disease . J Pediatr 73:116-119, 1968.Crossref 10. Reisner SH, Seelenfreund H, Ben-Bassat M: Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip . Acta Paediatr Scand 60:357-360, 1971.Crossref 11. Barsy AM de, Moens E, Dierclex L: Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea: A new syndrome? Helv Paediatr Acta 23:305-308, 1968. 12. Lamy M, et al: L'acrogeria . Arch Fr Pediatr 18:1-8, 1961. 13. Wiedemann HR: Uber einige Progeroide Krankheitsbilder und denen Diagnostische Einordnung . Z Kinderheilk 107:91-106, 1969.Crossref 14. Lamy M, Maroteaux P: Les Chondrodystrophies Genotypiques . Paris, L'expansion Scientifique Francaise, 1960. 15. Kozlowski K, Budzinska A: Combined metaphyseal and epiphyseal dysostosis . Am J Roentgenol Radium Ther Nucl Med 91:602-608, 1964.

Journal

American Journal of Diseases of Children – American Medical Association

Published: Apr 1, 1973

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