Case Report: Two Patients With Oculocerebrocutaneous Syndrome and Terminal Digital Amputations
We report 2 cases of patients with a rare multiple anomaly condition reported as Dellman (oculocerebrocutaneous) syndrome. In this article we discuss the clinical features and genetics of this condition. Notably, both of these patients have digital abnormalities which have not been previously descri...
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| Veröffentlicht in: | Seminars in pediatric neurology 2008-12, Vol.15 (4), p.221-223 |
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| container_title | Seminars in pediatric neurology |
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| creator | Asher, Nathan G., MD Olney, Ann H., MD Schaefer, G. Bradley, MD |
| description | We report 2 cases of patients with a rare multiple anomaly condition reported as Dellman (oculocerebrocutaneous) syndrome. In this article we discuss the clinical features and genetics of this condition. Notably, both of these patients have digital abnormalities which have not been previously described in the literature. |
| doi_str_mv | 10.1016/j.spen.2008.10.015 |
| format | Article |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Brain - abnormalities Eye Abnormalities - pathology Female Fingers - abnormalities Humans Infant Infant, Newborn Male Neurology Pediatrics Syndrome |
| title | Case Report: Two Patients With Oculocerebrocutaneous Syndrome and Terminal Digital Amputations |
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