Summary
We report here on a Japanese male infant with megalocornea-mental retardation (MMR) syndrome. He had megalocornea (corneal diameter: 13 mm) without glaucoma, developmental retardation, hypotonia, frontal bossing, high-arched palate, carp-like mouth, micrognathia, and delayed myelination. He seems to be included in Verloes type of the MMR syndrome.
Similar content being viewed by others
Article PDF
References
Antiñolo G, Rufo M, Borrego S, Morales C (1994): Megalocornea-mental retardation syndrome: an additional case. Am J Med Genet52: 196–197
Del Guidice E, Sartorio R, Romano A, Carozzo R, Andria G (1987): Megalocornea and mental retardation syndrome: Two new cases. Am J Med Genet26: 417–420
Frank Y, Ziprkowski M, Romano A, Stein R, Bat-Miriam Katznelson M, Cohen B, Goodman RM (1973): Megalocornea associated with multiple skeletal anomalies: A new genetic syndrome. J Genet Hum21: 67–72
Frydman M, Berkenstadt M, Raas-Rothschild A, Goodman RM (1990): Megalocornea, macrocephaly, mental and motor retardation (MMMM). Clin Genet38: 149–154
Grønbech-Jensen M (1989): Megalocornea and mental retardation: A new case. Am J Med Genet32: 468–469
Kimura M, Kato M, Yoshino K, Ohtani K, Takeshita K (1991): Megalocornea-mental retardation with delayed myelinization. Am J Med Genet38: 132–133
Neuhäuser GE, Kaveggia G, France TD, Opitz JM (1975): Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited. Z Kinderheilkd120: 1–18
Raas-Rothschild A, Berkenstadt M, Goodman RM (1988): Megalocornea and mental retardation syndrome. Am J Med Genet29: 221–222
Santolaya JM, Grijalbo A, Delgado A, ErdozaÃn G (1992): Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia. Am J Med Genet43: 609–611
Schmidt R, Rapin L (1981): The syndrome of mental retardation and megalocornea. Am J Hum Genet30: 90A
Temtamy S, Abdel-Hamid J, Hussein F, Abdel-Salam M, Abdel-Mequid N, Aboul-Ezz EHA (1991): Megalocornea mental retardation syndrome (MMR): Delineation of a new entity (MMR-2). Am J Hum Genet49: 125A
Verloes A, Journel H, Elmer C, Misson J-P, Le Merrer M, Kaplan J, Van Maldergem L, Deconinck H, Meire F (1993): Heterogeneityversus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types. Am J Med Genet46: 132–137
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Naritomi, K., Chinen, Y. & Tohma, T. Megalocornea-mental retardation syndrome: An additional case report. Jap J Human Genet 42, 461–465 (1997). https://doi.org/10.1007/BF02766950
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02766950