A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease)
The association of corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity with hyperglycinemia was presented for the first time by Balci and colleagues in 1974. After this report, some similar cases in the literature were referred to as Balci�...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2001-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3089 |
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| author | S Balci F G Demirçeken B Ocal P Zorlu T Teziç |
| author_facet | S Balci F G Demirçeken B Ocal P Zorlu T Teziç |
| author_sort | S Balci |
| collection | DOAJ |
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The association of corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity with hyperglycinemia was presented for the first time by Balci and colleagues in 1974. After this report, some similar cases in the literature were referred to as Balci's syndrome. In this paper we describe a new case of Balci's syndrome, a 2.5-month-old female patient with corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spacticity. All of these findings are acceptable as Balci's syndrome, and in addition she had congenital heart disease (ventricular septal defect) and renal anomalies. In this paper other syndromes associated with corneal opacity and mental retardation are discussed.
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| format | Article |
| id | doaj-art-2aa676e64e1f477cbadc388c21b30e9c |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2001-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-2aa676e64e1f477cbadc388c21b30e9c2025-08-20T02:59:42ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212001-10-01434A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease)S Balci0F G DemirçekenB OcalP ZorluT TeziçDepartment of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. The association of corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity with hyperglycinemia was presented for the first time by Balci and colleagues in 1974. After this report, some similar cases in the literature were referred to as Balci's syndrome. In this paper we describe a new case of Balci's syndrome, a 2.5-month-old female patient with corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spacticity. All of these findings are acceptable as Balci's syndrome, and in addition she had congenital heart disease (ventricular septal defect) and renal anomalies. In this paper other syndromes associated with corneal opacity and mental retardation are discussed. https://turkjpediatr.org/article/view/3089 |
| spellingShingle | S Balci F G Demirçeken B Ocal P Zorlu T Teziç A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease) The Turkish Journal of Pediatrics |
| title | A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease) |
| title_full | A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease) |
| title_fullStr | A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease) |
| title_full_unstemmed | A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease) |
| title_short | A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease) |
| title_sort | new case of balci s syndrome corneal opacity microphthalmia microcephaly mental retardation and generalized muscular spasticity associated with congenital heart disease |
| url | https://turkjpediatr.org/article/view/3089 |
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