Case Report: Two Patients With Oculocerebrocutaneous Syndrome and Terminal Digital Amputations

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
Hauptverfasser: Asher, Nathan G., MD, Olney, Ann H., MD, Schaefer, G. Bradley, MD
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Brain - abnormalities
Eye Abnormalities - pathology
Female
Fingers - abnormalities
Humans
Infant
Infant, Newborn
Male
Neurology
Pediatrics
Syndrome
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Zusammenfassung: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.
ISSN:1071-9091
1558-0776
DOI:10.1016/j.spen.2008.10.015