Literature DB >> 7143385

Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs.

I D Young, W G Macrae, H E Hughes, J S Crawford.   

Abstract

Entities:  

Mesh：

Year:  1982        PMID： 7143385      PMCID： PMC1048916          DOI： 10.1136/jmg.19.5.332

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


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  16 in total

1.  Dysgenesis mesodermalis of the cornea (Peters' anomaly) associated with cleft lip and palate.

Authors:  C H Ide; C Matta; J E Holt; G V Felker
Journal:  Ann Ophthalmol       Date:  1975-06

2.  A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.

Authors:  J P Fryns; F Moerman; P Goddeeris; C Bossuyt; H Van den Berghe
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

3.  Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia.

Authors:  S Balci; B Say; T Firat
Journal:  Clin Genet       Date:  1974-01       Impact factor: 4.438

4.  Congenital corneal leukomas. 1. Central defect in Descemet's membrane.

Authors:  W M Townsend
Journal:  Am J Ophthalmol       Date:  1974-01       Impact factor: 5.258

5.  A new oculocerebral syndrome with hypopigmentation.

Authors:  H E Cross; V A McKusick; W Breen
Journal:  J Pediatr       Date:  1967-03       Impact factor: 4.406

6.  [Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)].

Authors:  K W Ruprecht; F Majewski
Journal:  Klin Monbl Augenheilkd       Date:  1978-05       Impact factor: 0.700

7.  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

8.  Keratoconus posticus circumscriptus with indentation of the lens.

Authors:  H Charan
Journal:  Br J Ophthalmol       Date:  1967-07       Impact factor: 4.638

9.  A syndrome characterized by corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation.

Authors:  C Mietens; H Weber
Journal:  J Pediatr       Date:  1966-10       Impact factor: 4.406

10.  Posterior keratoconus.

Authors:  J H Krachmer; M M Rodrigues
Journal:  Arch Ophthalmol       Date:  1978-10
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