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Literature DB >> 1177280

Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.

Abstract

An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal, and urogenital systems. Discovery of an ocular coloboma should alert the clinician to search for other abnormalities.

Entities: Disease Species

Mesh：

Year: 1975 PMID： 1177280 PMCID： PMC1013291 DOI： 10.1136/jmg.12.3.289

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

21 in total

1. [An unusual syndrome of multiple malformations (association of ocular, cardiac and urinary tract malformations)].

Authors: D ROLANDO; R JEMMA
Journal: Pediatria (Napoli) Date: 1959 May-Jun

2. OCULAR DEFECTS IN THALIDOMIDE BABIES.

Authors: J F CULLEN
Journal: Br J Ophthalmol Date: 1964-03 Impact factor: 4.638

3. TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES.

Authors: W W WEBER; P MAMUNES; R DAY; P MILLER
Journal: Pediatrics Date: 1964-10 Impact factor: 7.124

4. THE NATURAL HISTORY OF VENTRICULAR SEPTAL DEFECT IN PATIENTS SURVIVING INFANCY.

Authors: D K BLOOMFIELD
Journal: Circulation Date: 1964-06 Impact factor: 29.690

5. Syndrome of coloboma with multiple congenital abnormalities in infancy.

Authors: H ANGELMAN
Journal: Br Med J Date: 1961-04-29

6. CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.

Authors: G SCHACHENMANN; W SCHMID; M FRACCARO; A MANNINI; L TIEPOLO; G P PERONA; E SARTORI
Journal: Lancet Date: 1965-08-07 Impact factor: 79.321

7. An aetiological study of congenital heart disease.

Authors: P E POLANI; M CAMPBELL
Journal: Ann Hum Genet Date: 1955-02 Impact factor: 1.670

8. The incidence and life expectation of children with congenital heart disease.

Authors: B MACMAHON; T MCKEOWN; R G RECORD
Journal: Br Heart J Date: 1953-04

9. The 13q-deletion syndrome.

Authors: P W Allderdice; J G Davis; O J Miller; H P Klinger; D Warburton; D A Miller; F H Allen; C A Abrams; E McGilvray
Journal: Am J Hum Genet Date: 1969-09 Impact factor: 11.025

10. X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.

Authors: M F Goldberg; V A McKusick
Journal: Am J Ophthalmol Date: 1971-05 Impact factor: 5.258

8 in total

Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.

1. [An unusual syndrome of multiple malformations (association of ocular, cardiac and urinary tract malformations)].

2. OCULAR DEFECTS IN THALIDOMIDE BABIES.

3. TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES.

4. THE NATURAL HISTORY OF VENTRICULAR SEPTAL DEFECT IN PATIENTS SURVIVING INFANCY.

5. Syndrome of coloboma with multiple congenital abnormalities in infancy.

6. CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.

7. An aetiological study of congenital heart disease.

8. The incidence and life expectation of children with congenital heart disease.

9. The 13q-deletion syndrome.

10. X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.

1. White sponge naevus and ocular coloboma.

2. Imaging in optic nerve coloboma.

3. Who's in CHARGE? Multidisciplinary management of patients with CHARGE association.

4. A discussion of 61 cases of optic nerve coloboma.

5. A reappraisal of the CHARGE association.

6. Features of DiGeorge syndrome and CHARGE association in five patients.

7. An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation.

8. The eye in the CHARGE association.