Abstract
A previously apparently undescribed “syndrome” is reported in which megalocornea and iris anomalies are accompanied by minor facial and skeletal anomalies, severe mental retardation, hypotonia, and seizures. The condition was found in 3 siblings of one family and in 4 sporadic cases; it is thought to be recessively inherited.
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Aita, J. A.: Congenital facial anomalies with neurologic defects. Springfield (Ill.):Thomas 1969
Calamandrei, G.: Megalocornea in due pazienti con sindrome craniosinostosica. G. ital. Oftal. 3, 278–285 (1950)
Collier, M.: Hemiatrophie faciale progressive avec mégalocornée, micropapille, et dystrophie nuageuse centrale de la cornée. Acta Ophthal. (Kbh.) 49, 946–954 (1971)
Collins, E. T.: Megalocornea and microcornea. Trans. Ophthal. Soc. U.K. 40, 132–142 (1920)
Dessoff, J.: Blue sclerotics, fragile bones and deafness. Arch. Ophthal. 12, 60–71 (1934)
Duke-Elder, S.: Congenital deformities In: System of ophthalmology, Vol. III, Part 2. St. Louis: Mosby Co. 1963
Foerter, O.: Der atonisch-astatische Typus der infantilen Cerebrallähmung. Dtsch. Arch. klin. Med. 98, 216–244 (1910)
Franceschetti, A., Klein, D.: Cornea. In: Waardenburg-Franceschetti-Klein, Genetics and ophthalmology, Vol. I. Springfield (Ill.): Thomas 1961
François, J.: Heredity in ophthalmology. St. Louis: Mosby Co. 1961
Frank, Y., Ziprkowski, M., Romano, A., Stein, R., Katznelson, M. B. M., Cohen, B., Goodman, R. M.: Megalocornea associated with multiple skeletal anomalies — new genetic syndrome. J. Génét. hum. 21, 67–72 (1973)
Friede, R.: Die Megalocornea congenita, eine phylogenetische Entwicklungsanomalie. Albrecht v. Graefes Arch. Ophthal. 148, 761–774 (1948)
Goodman, R. M., Gorlin, R. J.: The face in genetic disorders. St. Louis: Mosby Co. 1970
Heidensleber, E.: Poikiloderma congenitale accompanied by megalocornea in one eye. A case report. Acta Ophthal. (Kbh.) 38, 280–284 (1960)
Joannides, T.: Contribution à l'étude de la mégalocornée. Ann. Oculist. (Paris) 194, 45–53 (1961)
Mann, I.: Developmental abnormalities of the eye, 2nd. ed. London: Brit. Med. Assoc. 1957
McKusick, V. A.: Mendelian inheritance in man, 3rd ed. Baltimore: Johns Hopkins Univ. Press 1971
Posthumus, R. G.: Die Megalocornea in ihrem Zusammenhang mit anderen Abweichungen bei Angehörigen derselben Familie. Klin. Mbl. Augenheilk. 102, 1–11 (1939)
Ramsey, M. S., Fine, B. S., Shields, J. A., Yanoff, M.: The Marfan syndrome. A histopathological study of ocular findings. Amer. J. Ophthal. 76, 102–116 (1973)
Rogers, G. L., Polomeno, R.: Autosomal-dominant inheritance of megalocornea associated with Down's syndrome. Amer. J. Ophthal. 78, 526–529 (1974)
Soriano, H., Psilas, K.: Syndrome de Marchesani associé à une mégalocornée et à une atrophie de l'iris; étude échographique. Ophthalmologica (Basel) 161, 269–273 (1970)
Stephenson, W. V.: Anterior megalophthalmus and arachnodaktyly. Case report. Amer. J. Ophthal. 28, 315–317 (1945)
Thomas, C. J.: The cornea. Springfield (Ill.): Thomas 1955
Warburg, M.: Ocular signs and syndromes in the mentally retarded. Proceed. Internat. Copenhagen Congr. on the Scient. Study of Mental Retardation, p. 829–832 (1964)
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Paper No. 1815 from the University of Wisconsin Genetics Laboratory.
Supported by a Grant of the Brittingham Foundation and by NIH Grant GM 20130.
Supported by NIH Grant GM 20 130.
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Neuhäuser, G., Kaveggia, E.G., France, T.D. et al. Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited. Z. Kinder-Heilk. 120, 1–18 (1975). https://doi.org/10.1007/BF00443795
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DOI: https://doi.org/10.1007/BF00443795