Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?
We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infa...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2000-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3128 |
| _version_ | 1826543690519150592 |
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| author | B Kirel N Kural A Yakut B Adapinar |
| author_facet | B Kirel N Kural A Yakut B Adapinar |
| author_sort | B Kirel |
| collection | DOAJ |
| description |
We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed.
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| first_indexed | 2025-03-14T04:50:05Z |
| format | Article |
| id | doaj.art-c1ff9e9c658449e5b4c5ea46578bb8a6 |
| institution | Directory Open Access Journal |
| issn | 0041-4301 2791-6421 |
| language | English |
| last_indexed | 2025-03-14T04:50:05Z |
| publishDate | 2000-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj.art-c1ff9e9c658449e5b4c5ea46578bb8a62025-03-07T19:43:50ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212000-04-01422Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?B Kirel0N KuralA YakutB AdapinarDepartment of Pediatrics, Osmangazi University Faculty of Medicine, Eskişehir, Turkey. We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed. https://turkjpediatr.org/article/view/3128 |
| spellingShingle | B Kirel N Kural A Yakut B Adapinar Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? The Turkish Journal of Pediatrics |
| title | Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? |
| title_full | Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? |
| title_fullStr | Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? |
| title_full_unstemmed | Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? |
| title_short | Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? |
| title_sort | triplets with growth failure microcephaly mental retardation nail hypoplasia and corpus callosum agenesis is it a variant of coffin siris or a new syndrome |
| url | https://turkjpediatr.org/article/view/3128 |
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