Snyder-Robinson syndrome
Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosi...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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University of São Paulo
2018-11-01
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| Series: | Autopsy and Case Reports |
| Subjects: | |
| Online Access: | http://www.revistas.usp.br/autopsy/article/view/151727 |
| _version_ | 1818676368570843136 |
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| author | Rachel Starks Patricia Kirby Michael Ciliberto Marco Hefti |
| author_facet | Rachel Starks Patricia Kirby Michael Ciliberto Marco Hefti |
| author_sort | Rachel Starks |
| collection | DOAJ |
| description | Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosis with frequent fractures. We report here a pediatric autopsy of a 4 year old male with a history of intellectual disability, gait abnormalities, multiple fractures, and seizures previously diagnosed with Snyder-Robinson syndrome with an SMS gene mutation (c.831G>T:p.L277F). The cause of death was hypoxic-ischemic encephalopathy secondary to prolonged seizure activity. Although Snyder-Robinson syndrome is rare, the need to recognize clinical findings in order to trigger genetic testing has likely resulted in under diagnosis. |
| first_indexed | 2024-12-17T08:42:22Z |
| format | Article |
| id | doaj.art-b8e49896156f4502bee3d21027741355 |
| institution | Directory Open Access Journal |
| issn | 2236-1960 |
| language | English |
| last_indexed | 2024-12-17T08:42:22Z |
| publishDate | 2018-11-01 |
| publisher | University of São Paulo |
| record_format | Article |
| series | Autopsy and Case Reports |
| spelling | doaj.art-b8e49896156f4502bee3d210277413552022-12-21T21:56:18ZengUniversity of São PauloAutopsy and Case Reports2236-19602018-11-0183Snyder-Robinson syndromeRachel Starks0Patricia Kirby1Michael Ciliberto2Marco Hefti3University of Iowa Hospitals and ClinicsUniversity of Iowa Hospitals and ClinicsUniversity of Iowa Hospitals and ClinicsUniversity of Iowa Hospitals and ClinicsSnyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosis with frequent fractures. We report here a pediatric autopsy of a 4 year old male with a history of intellectual disability, gait abnormalities, multiple fractures, and seizures previously diagnosed with Snyder-Robinson syndrome with an SMS gene mutation (c.831G>T:p.L277F). The cause of death was hypoxic-ischemic encephalopathy secondary to prolonged seizure activity. Although Snyder-Robinson syndrome is rare, the need to recognize clinical findings in order to trigger genetic testing has likely resulted in under diagnosis.http://www.revistas.usp.br/autopsy/article/view/151727Spermine SynthaseSnyder-Robinson syndromeMental RetardationX-linkedIntellectual Disability |
| spellingShingle | Rachel Starks Patricia Kirby Michael Ciliberto Marco Hefti Snyder-Robinson syndrome Autopsy and Case Reports Spermine Synthase Snyder-Robinson syndrome Mental Retardation X-linked Intellectual Disability |
| title | Snyder-Robinson syndrome |
| title_full | Snyder-Robinson syndrome |
| title_fullStr | Snyder-Robinson syndrome |
| title_full_unstemmed | Snyder-Robinson syndrome |
| title_short | Snyder-Robinson syndrome |
| title_sort | snyder robinson syndrome |
| topic | Spermine Synthase Snyder-Robinson syndrome Mental Retardation X-linked Intellectual Disability |
| url | http://www.revistas.usp.br/autopsy/article/view/151727 |
| work_keys_str_mv | AT rachelstarks snyderrobinsonsyndrome AT patriciakirby snyderrobinsonsyndrome AT michaelciliberto snyderrobinsonsyndrome AT marcohefti snyderrobinsonsyndrome |