Literature DB >> 7277429

Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.

R M Winter, A Garner.   

Abstract

An infant presenting with hydrocephalus, pseudoencephalocele, agyria, and ocular defects, consisting of anterior chamber anomalies and retinal dysplasia, is reported. This is thought to be a further case of an autosomal recessive syndrome of which six cases have been previously described.

Entities:  

Mesh：

Year:  1981        PMID： 7277429      PMCID： PMC1048743          DOI： 10.1136/jmg.18.4.314

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


  8 in total

1.  Norie's disease (atrofia bulborum hereditaria).

Authors:  M WARBURG
Journal:  Acta Ophthalmol (Copenh)       Date:  1963

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.  Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition.

Authors:  R A Pagon; J W Chandler; W R Collie; S K Clarren; J Moon; S A Minkin; J G Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1978

4.  The anterior chamber cleavage syndrome.

Authors:  A B Reese; R M Ellsworth
Journal:  Arch Ophthalmol       Date:  1966-03

5.  A familial syndrome of central nervous system and ocular malformations.

Authors:  J Chemke; B Czernobilsky; G Mundel; Y R Barishak
Journal:  Clin Genet       Date:  1975-01       Impact factor: 4.438

Review 6.  The heterogeneity of microphthalmia in the mentally retarded.

Authors:  M Warburg
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03

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

Authors:  M Warburg
Journal:  Am J Ophthalmol       Date:  1978-01       Impact factor: 5.258

8.  Bilateral optic system aplasia with relatively normal eyes.

Authors:  M Yanoff; L B Rorke; M I Allman
Journal:  Arch Ophthalmol       Date:  1978-01
  8 in total
  8 in total

1.  A novel pattern of oculocerebral malformation.

Authors:  B J Clark; W R Lee; D Doyle; R Arngrimsson; J L Tolmie; J B Stephenson
Journal:  Br J Ophthalmol       Date:  1997-06       Impact factor: 4.638

2.  Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review.

Authors:  M F Attia; J Burn; J H McCarthy; D P Purohit; D W Milligan
Journal:  Br J Ophthalmol       Date:  1986-10       Impact factor: 4.638

3.  Congenital absence of pyramids and its significance in genetic diseases.

Authors:  C W Chow; J L Halliday; R M Anderson; D M Danks; D W Fortune
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

4.  Cephaloceles: clinical and neuroradiological appearance. Associated cerebral malformations.

Authors:  C Diebler; O Dulac
Journal:  Neuroradiology       Date:  1983       Impact factor: 2.804

5.  Ocular malformations and lissencephaly.

Authors:  M Warburg
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

6.  Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome.

Authors:  J Towfighi; J W Sassani; K Suzuki; R L Ladda
Journal:  Acta Neuropathol       Date:  1984       Impact factor: 17.088

7.  X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.

Authors:  J Halliday; C W Chow; D Wallace; D M Danks
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

8.  Neurosurgical management of Walker-Warburg syndrome.

Authors:  J F Martínez-Lage; J M García Santos; M Poza; A Puche; C Casas; T Rodriguez Costa
Journal:  Childs Nerv Syst       Date:  1995-03       Impact factor: 1.475
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.