Literature DB >> 8933347

Megalocornea-mental retardation syndrome: report of a new case.

I Barisić1, I Ligutić, L Zergollern.   

Abstract

Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.

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Year:  1996        PMID： 8933347      PMCID： PMC1050773          DOI： 10.1136/jmg.33.10.882

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

Review 1.  Megalocornea and mental retardation syndrome: a new case.

Authors:  M Grønbech-Jensen
Journal:  Am J Med Genet       Date:  1989-04

2.  Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia.

Authors:  J M Santolaya; A Grijalbo; A Delgado; G Erdozaín
Journal:  Am J Med Genet       Date:  1992-06-01

3.  Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited.

Authors:  G Neuhäuser; E G Kaveggia; T D France; J M Opitz
Journal:  Z Kinderheilkd       Date:  1975-07-01

Review 4.  Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

Authors:  A Verloes; H Journel; C Elmer; J P Misson; M Le Merrer; J Kaplan; L Van Maldergem; H Deconinck; F Meire
Journal:  Am J Med Genet       Date:  1993-04-15
  4 in total

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