Literature DB >> 1172332

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

G Neuhäuser, E G Kaveggia, T D France, J M Opitz.   

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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Mesh：

Year:  1975        PMID： 1172332     DOI： 10.1007/bf00443795

Source DB:  PubMed          Journal:  Z Kinderheilkd        ISSN： 0044-2917


  7 in total

1.  [Contribution to the study of megalocornea (with genealogical tree)].

Authors:  T JOANNIDES
Journal:  Ann Ocul (Paris)       Date:  1961-01

2.  Poikiloderma congenitale accompanied by megalocornea in one eye. A case report.

Authors:  E HEIDENSLEBEN
Journal:  Acta Ophthalmol (Copenh)       Date:  1960

3.  Autosomal-dominant inheritance of megalocornea associated with down's syndrome.

Authors:  G L Rogers; R C Polomeno
Journal:  Am J Ophthalmol       Date:  1974-09       Impact factor: 5.258

4.  The Marfan syndrome. A histopathologic study of ocular findings.

Authors:  M S Ramsey; B S Fine; J A Shields; M Yanoff
Journal:  Am J Ophthalmol       Date:  1973-07       Impact factor: 5.258

5.  Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?

Authors:  Y Frank; M Ziprkowski; A Romano; R Stein; M B Katznelson; B Cohen; R M Goodman
Journal:  J Genet Hum       Date:  1973-06

6.  [Progressive facial hemiatrophy with megalocornea, micropupil and central nebular dystrophy of the cornea].

Authors:  M Collier
Journal:  Acta Ophthalmol (Copenh)       Date:  1971

7.  [Marchesani syndrome associated with a megalocornea and an atrophy of the iris: echographic study].

Authors:  H Soriano; K Psilas
Journal:  Ophthalmologica       Date:  1970       Impact factor: 3.250
  7 in total
  4 in total

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

Authors:  I Barisić; I Ligutić; L Zergollern
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

2.  Megalocornea. Clinical and genetic aspects.

Authors:  F M Meire
Journal:  Doc Ophthalmol       Date:  1994       Impact factor: 2.379

3.  Biometry in X linked megalocornea: pathognomonic findings.

Authors:  F M Meire; J W Delleman
Journal:  Br J Ophthalmol       Date:  1994-10       Impact factor: 4.638

4.  Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

Authors:  Alice E Davidson; Sek-Shir Cheong; Pirro G Hysi; Cristina Venturini; Vincent Plagnol; Jonathan B Ruddle; Hala Ali; Nicole Carnt; Jessica C Gardner; Hala Hassan; Else Gade; Lisa Kearns; Anne Marie Jelsig; Marie Restori; Tom R Webb; David Laws; Michael Cosgrove; Jens M Hertz; Isabelle Russell-Eggitt; Daniela T Pilz; Christopher J Hammond; Stephen J Tuft; Alison J Hardcastle
Journal:  PLoS One       Date:  2014-08-05       Impact factor: 3.240
  4 in total

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