Mowat-Wilson syndrome: A case report
Introduction. Mowat-Wilson syndrome (MWS) is characterised by severe mental retardation and multiple congenital anomalies. Key features for diagnosis are specific facial dysmorphism with uplifted ear lobes and Hirschsprung's disease. Ganglionic disorders of the colon, both the number of ganglio...
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| Format: | Article |
| Language: | English |
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Serbian Medical Society
2009-01-01
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| Series: | Srpski Arhiv za Celokupno Lekarstvo |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2009/0370-81790908426C.pdf |
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| author | Čuturilo Goran Stefanović Igor Jovanović Ida Miletić-Grković Slobodanka Novaković Ivana |
| author_facet | Čuturilo Goran Stefanović Igor Jovanović Ida Miletić-Grković Slobodanka Novaković Ivana |
| author_sort | Čuturilo Goran |
| collection | DOAJ |
| description | Introduction. Mowat-Wilson syndrome (MWS) is characterised by severe mental retardation and multiple congenital anomalies. Key features for diagnosis are specific facial dysmorphism with uplifted ear lobes and Hirschsprung's disease. Ganglionic disorders of the colon, both the number of ganglion cells and the length of the aganglionic segment vary significantly in these patients. The disease is caused by ZFHX1B gene mutation. The management of MWS is symptomatic. Case outline. We report a four-year old boy with mental retardation, specific facial dysmorphy and multiple anomalies. During prenatal follow-up intrauterine growth retardation was revealed. Karyotype was normal. Clinical findings showed that growth and mental retardation, gastrointestinal disturbance and heart defect were predominant. A gastrostoma was inserted. Hypoganglionosis of the colon caused severe obstipation. He had a severe stenosis of the pulmonary artery and was a candidate for cardiac surgery. There were several attempts to establish diagnosis, but so far, without results. Conclusion. Hirschsprung's disease/hypoganglionosis of the colon associated with other congenital anomalies or mental retardation require evaluation for dysmorphic syndromes. One of them is MWS, presented in this report. |
| first_indexed | 2024-12-19T14:14:02Z |
| format | Article |
| id | doaj.art-5ef57270d0e64fd98945672d9c2a88eb |
| institution | Directory Open Access Journal |
| issn | 0370-8179 |
| language | English |
| last_indexed | 2024-12-19T14:14:02Z |
| publishDate | 2009-01-01 |
| publisher | Serbian Medical Society |
| record_format | Article |
| series | Srpski Arhiv za Celokupno Lekarstvo |
| spelling | doaj.art-5ef57270d0e64fd98945672d9c2a88eb2022-12-21T20:18:03ZengSerbian Medical SocietySrpski Arhiv za Celokupno Lekarstvo0370-81792009-01-011377-842642910.2298/SARH0908426CMowat-Wilson syndrome: A case reportČuturilo GoranStefanović IgorJovanović IdaMiletić-Grković SlobodankaNovaković IvanaIntroduction. Mowat-Wilson syndrome (MWS) is characterised by severe mental retardation and multiple congenital anomalies. Key features for diagnosis are specific facial dysmorphism with uplifted ear lobes and Hirschsprung's disease. Ganglionic disorders of the colon, both the number of ganglion cells and the length of the aganglionic segment vary significantly in these patients. The disease is caused by ZFHX1B gene mutation. The management of MWS is symptomatic. Case outline. We report a four-year old boy with mental retardation, specific facial dysmorphy and multiple anomalies. During prenatal follow-up intrauterine growth retardation was revealed. Karyotype was normal. Clinical findings showed that growth and mental retardation, gastrointestinal disturbance and heart defect were predominant. A gastrostoma was inserted. Hypoganglionosis of the colon caused severe obstipation. He had a severe stenosis of the pulmonary artery and was a candidate for cardiac surgery. There were several attempts to establish diagnosis, but so far, without results. Conclusion. Hirschsprung's disease/hypoganglionosis of the colon associated with other congenital anomalies or mental retardation require evaluation for dysmorphic syndromes. One of them is MWS, presented in this report.http://www.doiserbia.nb.rs/img/doi/0370-8179/2009/0370-81790908426C.pdfMowat-Wilson syndromepsychomotor retardationfacial dysmorphismHirschsprung's disease |
| spellingShingle | Čuturilo Goran Stefanović Igor Jovanović Ida Miletić-Grković Slobodanka Novaković Ivana Mowat-Wilson syndrome: A case report Srpski Arhiv za Celokupno Lekarstvo Mowat-Wilson syndrome psychomotor retardation facial dysmorphism Hirschsprung's disease |
| title | Mowat-Wilson syndrome: A case report |
| title_full | Mowat-Wilson syndrome: A case report |
| title_fullStr | Mowat-Wilson syndrome: A case report |
| title_full_unstemmed | Mowat-Wilson syndrome: A case report |
| title_short | Mowat-Wilson syndrome: A case report |
| title_sort | mowat wilson syndrome a case report |
| topic | Mowat-Wilson syndrome psychomotor retardation facial dysmorphism Hirschsprung's disease |
| url | http://www.doiserbia.nb.rs/img/doi/0370-8179/2009/0370-81790908426C.pdf |
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