Literature DB >> 3573001

Microcephaly, microphthalmos, and retinal folds: report of a family.

I D Young, A R Fielder, K Simpson.   

Abstract

A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and the sister was also microcephalic. Another family showing similar findings has been described, indicating that this combination of abnormalities constitutes a discrete entity showing single gene inheritance.

Entities:  

Mesh：

Year:  1987        PMID： 3573001      PMCID： PMC1049953          DOI： 10.1136/jmg.24.3.172

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


  9 in total

1.  [Two cases of ablatio falciformis congenita and other 2 cases of ocular congenital anomalies, which appeared in a pedigree with consangineous marriages].

Authors:  Y MASUDA
Journal:  Rinsho Ganka       Date:  1962-03

2.  Doyne Memorial Lecture, 1979. Retinal malformations: aetiological heterogeneity and morphological similarity in congenital retinal non-attachment and falciform folds.

Authors:  M Warburg
Journal:  Trans Ophthalmol Soc U K       Date:  1979-07

3.  Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities.

Authors:  J S Duker; J S Weiss; M Siber; F R Bieber; D M Albert
Journal:  Am J Ophthalmol       Date:  1985-01-15       Impact factor: 5.258

4.  Falciform retinal fold as sign of familial exudative vitreoretinopathy.

Authors:  M Nishimura; T Yamana; M Sugino; T Kohno; Y Yamana; M Minei; H Sanui
Journal:  Jpn J Ophthalmol       Date:  1983       Impact factor: 2.447

5.  Microcephalic dwarfism in sisters.

Authors:  D Bixler; R M Antley
Journal:  Birth Defects Orig Artic Ser       Date:  1974

6.  X-linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females.

Authors:  V Godel; R M Goodman
Journal:  Clin Genet       Date:  1981-10       Impact factor: 4.438

7.  Interstitial del(13q) associated with blindness and mental retardation.

Authors:  R C Juberg; P N Mowrey
Journal:  Am J Med Genet       Date:  1984-03

8.  Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.

Authors:  A L Jarmas; D D Weaver; F D Ellis; A Davis
Journal:  Am J Dis Child       Date:  1981-10

9.  Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold.

Authors:  M Warburg
Journal:  Am J Ophthalmol       Date:  1978-01       Impact factor: 5.258
  9 in total
  5 in total

1.  A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20.

Authors:  R Vivarelli; O Zuffardi; P Maraschio; C Anichini; R Scarinci
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

Review 2.  Familial exudative vitreoretinopathy and related retinopathies.

Authors:  D F Gilmour
Journal:  Eye (Lond)       Date:  2014-10-17       Impact factor: 3.775

3.  No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Authors:  Matthieu J Schlögel; Antonella Mendola; Elodie Fastré; Pradeep Vasudevan; Koen Devriendt; Thomy J L de Ravel; Hilde Van Esch; Ingele Casteels; Ignacio Arroyo Carrera; Francesca Cristofoli; Karen Fieggen; Katheryn Jones; Mark Lipson; Irina Balikova; Ami Singer; Maria Soller; María Mercedes Villanueva; Nicole Revencu; Laurence M Boon; Pascal Brouillard; Miikka Vikkula
Journal:  Orphanet J Rare Dis       Date:  2015-05-02       Impact factor: 4.123

4.  Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.

Authors:  Eleni Papageorgiou; Anastasia Pilat; Frank Proudlock; Helena Lee; Ravi Purohit; Viral Sheth; Pradeep Vasudevan; Irene Gottlob
Journal:  Neurology       Date:  2018-07-11       Impact factor: 9.910

5.  Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Authors:  Gabriela E Jones; Pia Ostergaard; Anthony T Moore; Fiona C Connell; Denise Williams; Oliver Quarrell; Angela F Brady; Isabel Spier; Filiz Hazan; Oana Moldovan; Dagmar Wieczorek; Barbara Mikat; Florence Petit; Christine Coubes; Robert A Saul; Glen Brice; Kristiana Gordon; Steve Jeffery; Peter S Mortimer; Pradeep C Vasudevan; Sahar Mansour
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246
  5 in total

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