Emanuel syndrome due to unusual pattern
Abstract Background The hallmarks of Emanuel syndrome are pre- and postnatal growth retardation, microcephaly, global developmental delay, ear anomalies, and in males, heart, kidney, and genital abnormalities. Results This study describes the atypical features of Emanuel syndrome, a rare chromosomal...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2024-02-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-024-00494-6 |
| _version_ | 1797274412699877376 |
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| author | Hala T. El-Bassyouni Engy A. Ashaat Khaled Hamed Maha Rashed Azza E. Abd-Elnaby Marwa Shehab |
| author_facet | Hala T. El-Bassyouni Engy A. Ashaat Khaled Hamed Maha Rashed Azza E. Abd-Elnaby Marwa Shehab |
| author_sort | Hala T. El-Bassyouni |
| collection | DOAJ |
| description | Abstract Background The hallmarks of Emanuel syndrome are pre- and postnatal growth retardation, microcephaly, global developmental delay, ear anomalies, and in males, heart, kidney, and genital abnormalities. Results This study describes the atypical features of Emanuel syndrome, a rare chromosomal disorder. The patient had several physical features that are common in Emanuel syndrome, such as microcephaly, hypotonia, and ear anomalies. However, he exhibited certain unusual characteristics, including the lack of a prominent forehead, epicanthic folds, and a downward slanting palpebral fissure. There was infratentorial brain involution with a minor infarction in the left cerebral hemisphere and cerebellar hypoplasia on the magnetic resonance imaging (MRI) scan of the brain. Additionally, the patient had bilateral mild hearing loss and an aberrant epileptogenic pattern on the electroencephalogram (EEG). Orodental examination showed a long philtrum, everted fissured thick lower lip, highly attached labial frenum, and prominent median palatine raphe. The karyotype revealed 45XY t(11;22)(p15.5;q11.22), which is different from the typical karyotype of Emanuel syndrome. Conclusions This case sheds light on the possibility of alternative genetic mechanisms, beyond chromosomal abnormalities, in patients presenting with multiple congenital anomalies and facial dysmorphism. |
| first_indexed | 2024-03-07T14:58:59Z |
| format | Article |
| id | doaj.art-eda3043060a542e784738f1cd6a26243 |
| institution | Directory Open Access Journal |
| issn | 2090-2441 |
| language | English |
| last_indexed | 2024-03-07T14:58:59Z |
| publishDate | 2024-02-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-eda3043060a542e784738f1cd6a262432024-03-05T19:19:20ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412024-02-012511610.1186/s43042-024-00494-6Emanuel syndrome due to unusual patternHala T. El-Bassyouni0Engy A. Ashaat1Khaled Hamed2Maha Rashed3Azza E. Abd-Elnaby4Marwa Shehab5Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research CentreClinical Genetics Department, Human Genetics and Genome Research Institute, National Research CentreClinical Genetics Department, Human Genetics and Genome Research Institute, National Research CentreOrodental Genetics Department, National Research CentreCytogenetics Department, National Research CentreCytogenetics Department, National Research CentreAbstract Background The hallmarks of Emanuel syndrome are pre- and postnatal growth retardation, microcephaly, global developmental delay, ear anomalies, and in males, heart, kidney, and genital abnormalities. Results This study describes the atypical features of Emanuel syndrome, a rare chromosomal disorder. The patient had several physical features that are common in Emanuel syndrome, such as microcephaly, hypotonia, and ear anomalies. However, he exhibited certain unusual characteristics, including the lack of a prominent forehead, epicanthic folds, and a downward slanting palpebral fissure. There was infratentorial brain involution with a minor infarction in the left cerebral hemisphere and cerebellar hypoplasia on the magnetic resonance imaging (MRI) scan of the brain. Additionally, the patient had bilateral mild hearing loss and an aberrant epileptogenic pattern on the electroencephalogram (EEG). Orodental examination showed a long philtrum, everted fissured thick lower lip, highly attached labial frenum, and prominent median palatine raphe. The karyotype revealed 45XY t(11;22)(p15.5;q11.22), which is different from the typical karyotype of Emanuel syndrome. Conclusions This case sheds light on the possibility of alternative genetic mechanisms, beyond chromosomal abnormalities, in patients presenting with multiple congenital anomalies and facial dysmorphism.https://doi.org/10.1186/s43042-024-00494-6Emanuel syndromet(11;22)DysmorphismIntellectual disabilityMicrocephalyAnd convulsions |
| spellingShingle | Hala T. El-Bassyouni Engy A. Ashaat Khaled Hamed Maha Rashed Azza E. Abd-Elnaby Marwa Shehab Emanuel syndrome due to unusual pattern Egyptian Journal of Medical Human Genetics Emanuel syndrome t(11;22) Dysmorphism Intellectual disability Microcephaly And convulsions |
| title | Emanuel syndrome due to unusual pattern |
| title_full | Emanuel syndrome due to unusual pattern |
| title_fullStr | Emanuel syndrome due to unusual pattern |
| title_full_unstemmed | Emanuel syndrome due to unusual pattern |
| title_short | Emanuel syndrome due to unusual pattern |
| title_sort | emanuel syndrome due to unusual pattern |
| topic | Emanuel syndrome t(11;22) Dysmorphism Intellectual disability Microcephaly And convulsions |
| url | https://doi.org/10.1186/s43042-024-00494-6 |
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