Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecula...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/247683 |
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| author | Rose H. Mende David P. Drake Raimos M. Olomi Ben C. J. Hamel |
| author_facet | Rose H. Mende David P. Drake Raimos M. Olomi Ben C. J. Hamel |
| author_sort | Rose H. Mende |
| collection | DOAJ |
| description | Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus. This is the third report of Cornelia de Lange syndrome and imperforate anus. |
| format | Article |
| id | doaj-art-34515edbfdf244aa9b0763516d791907 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-34515edbfdf244aa9b0763516d7919072025-02-03T05:45:24ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/247683247683Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL MutationRose H. Mende0David P. Drake1Raimos M. Olomi2Ben C. J. Hamel3Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, TanzaniaDepartment of Paediatric Surgery, Hospital for Sick Children, Great Ormond Street, London WC1N 3JH, UKDepartment of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, TanzaniaDirectorate of Postgraduate Studies, Kilimanjaro Christian Medical University College, P.O. Box 2240, Moshi, TanzaniaCornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus. This is the third report of Cornelia de Lange syndrome and imperforate anus.http://dx.doi.org/10.1155/2012/247683 |
| spellingShingle | Rose H. Mende David P. Drake Raimos M. Olomi Ben C. J. Hamel Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation Case Reports in Genetics |
| title | Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation |
| title_full | Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation |
| title_fullStr | Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation |
| title_full_unstemmed | Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation |
| title_short | Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation |
| title_sort | cornelia de lange syndrome a newborn with imperforate anus and a nipbl mutation |
| url | http://dx.doi.org/10.1155/2012/247683 |
| work_keys_str_mv | AT rosehmende corneliadelangesyndromeanewbornwithimperforateanusandanipblmutation AT davidpdrake corneliadelangesyndromeanewbornwithimperforateanusandanipblmutation AT raimosmolomi corneliadelangesyndromeanewbornwithimperforateanusandanipblmutation AT bencjhamel corneliadelangesyndromeanewbornwithimperforateanusandanipblmutation |