A unique association of Marfan syndrome with craniofacial hypoplasia, oligophrenia and severe microphthalmia
Case Reports
Abstract
The present report describes a case of Marfan syndrome with microphthalmia, facial and cerebral hemiatrophy and oligophrenia. This association has never previously been described in patients with Marfan disease.
Key-Words
Marfan syndrome craniofacial hypoplasia oligophrenia microphthalmiaSommario
Viene descritto il caso di un paziente con sindrome di Marfan associata a microftalmia, emiatrofia facciale e cerebrale con oligofrenia. Il caso di una tale associazione non era stata mai descritto in letteratura e viene qui discusso dagli autori.
Preview
Unable to display preview. Download preview PDF.
References
- [1]Agarwal T., Singh V., Mathur U.S., Bhandari V.M., Natani G.D.:Marfan's syndrome associated with epilepsy and mental deficiency. J. Assoc. Physician. India: 34(8):594–595, 1986.Google Scholar
- [2]Brown O.R., De Most H., Kloster F.E.:Aortic root dilatation and mitral valve prolapse in Marfan's syndrome: an echocardiographic study. Circulation 52:651–657, 1975.PubMedGoogle Scholar
- [3]Brock J.:Weiterer beitrag zur lehre von arachnodaktylie. Z. Kinder hilk. 47:702, 1929.Google Scholar
- [4]Danielle W.H.:Bilan portat sur 967 conseils génétiques donnés de 1948 a 1974. J. Genet. Hum. 27 (suppl. 1):1–174, 1979.Google Scholar
- [5]Eldridge R.:The metacarpal index: a useful aid in the diagnosis of the Marfan syndrome. Arch. Int. Med. 113:140–146, 1964.Google Scholar
- [6]Fishman E.K., Zinreich S.J., Kumar A.J., Rosenbaum A.E., Siegelman S.S.:Sacral abnormalities in Marfan syndrome. J. Comput. Assist. Tomogr 7(5):851–856, 1983.PubMedGoogle Scholar
- [7]Floret D., Rosemberg G.D., Robert J.M., Monnet P.:Association de maladie de Duchenne et maladie de Marfan. Pédiatrie. 28:331–336, 1973.PubMedGoogle Scholar
- [8]Gobbi G., Moschen M.M., Moschen R., Calasso E., Ross P.G.:Sindrome di Marfan, oligofrenia e disturbi del linguaggio: osservazione neuro-psicologica. Quaderni di Neuropsichiatria Infantile. 22(1):880–883, 1980.Google Scholar
- [9]Golrin R.J., Vickers R.A.:Multiple mucosal neuromas, pheochomocytomas, medullary carcinoma of the thyroid and marfanoid body build with muscle wasting: re-examination of a syndrome of neural crest malmigration. Birth Defects Orig. Art. Ser. 7:69–79, 1971.Google Scholar
- [10]Melbran J., Piccoli H.R.:Arachnodactilia (sindroma de Marfan). Arch. Oftal. (B. Aires). 12:3–17, 1937.Google Scholar
- [11]Mordoch J.L., Walker B.A., Halpern B.L., Kuzma J.W., McKusick V.A.:Life expectancy and causes of death in the Marfan syndrome. N. Engl. J. Med. 286:804–808, 1972.Google Scholar
- [12]Mosby C.V. in:McKusick V.A. eds:Heritable disorders of connective tissue. 4th Ed. St. Luis Mo, 1972.Google Scholar
- [13]Passachoff H.D., Madonick M.J., Draver C.:Arachnodactyly in four siblings with pneumoencephalographic observations in two. Amer. J. Dis. Child. 67:201–204, 1994.Google Scholar
- [14]Pereiro A., Brihaye J., Dhaene R.:Homodissection pariétale oblitérante de l'artérie basilaire. Acta Neurol. Psychiat. Belg. 66:123–137, 1966.Google Scholar
- [15]Pyeritz R.E., McKusick V.A.:The Marfan syndrome: diagnosis and management. N. Engl. J. Med. 300:772–777, 1979.PubMedGoogle Scholar
- [16]Ross I.J.:Arachnodactyly. Review of recent literature and report of a case with cleft palate. Amer. J. Dis. Child. 78:417–436, 1949.Google Scholar
- [17]Weill G.:Ectopie des cristallins et malformations générales. Ann. Oculist. (Paris) 169:21–44, 1932.Google Scholar
- [18]Wilson R.:Marfan's syndrome: description of a family. Amer. J. Med. 23:434–437, 1957.PubMedGoogle Scholar
Copyright information
© Masson Italia Periodici 1988