Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review
Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2005-01-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200001 |
| _version_ | 1811309804370526208 |
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| author | Carlos Eduardo Steiner Maria Letícia Cintra Antonia Paula Marques-de-Faria |
| author_facet | Carlos Eduardo Steiner Maria Letícia Cintra Antonia Paula Marques-de-Faria |
| author_sort | Carlos Eduardo Steiner |
| collection | DOAJ |
| description | Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow-up revealed that the clinical picture was compatible with the diagnosis of cutis laxa with growth and developmental delay (CLGDD), gerodermia osteodysplastica (GO) and wrinkly-skin syndrome (WWS). It has recently been suggested that cutis laxa with growth and developmental delay, gerodermia osteodysplastica and wrinkly skin syndrome are the same condition. A review concerning this diagnosis is also presented. |
| first_indexed | 2024-04-13T09:47:23Z |
| format | Article |
| id | doaj.art-4bfe75760ffa429b933be671c1e06f3a |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-04-13T09:47:23Z |
| publishDate | 2005-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-4bfe75760ffa429b933be671c1e06f3a2022-12-22T02:51:41ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852005-01-0128218119010.1590/S1415-47572005000200001Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature reviewCarlos Eduardo SteinerMaria Letícia CintraAntonia Paula Marques-de-FariaTwo unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow-up revealed that the clinical picture was compatible with the diagnosis of cutis laxa with growth and developmental delay (CLGDD), gerodermia osteodysplastica (GO) and wrinkly-skin syndrome (WWS). It has recently been suggested that cutis laxa with growth and developmental delay, gerodermia osteodysplastica and wrinkly skin syndrome are the same condition. A review concerning this diagnosis is also presented.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200001cutis laxaDe Barsy syndromegerodermia osteodysplasticawrinkly skin syndrome |
| spellingShingle | Carlos Eduardo Steiner Maria Letícia Cintra Antonia Paula Marques-de-Faria Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review Genetics and Molecular Biology cutis laxa De Barsy syndrome gerodermia osteodysplastica wrinkly skin syndrome |
| title | Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review |
| title_full | Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review |
| title_fullStr | Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review |
| title_full_unstemmed | Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review |
| title_short | Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review |
| title_sort | cutis laxa with growth and developmental delay wrinkly skin syndrome and gerodermia osteodysplastica a report of two unrelated patients and a literature review |
| topic | cutis laxa De Barsy syndrome gerodermia osteodysplastica wrinkly skin syndrome |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200001 |
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