Adelaide Research & Scholarship
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https://hdl.handle.net/2440/52294
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| Type: | Journal article |
| Title: | Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome |
| Author: | Laforest, C. Leibovitch, I. Selva-Nayagam, D. Crompton, J. Haan, E. |
| Citation: | Clinical Dysmorphology, 2008; 17(2):87-90 |
| Publisher: | Lippincott Williams & Wilkins |
| Issue Date: | 2008 |
| ISSN: | 0962-8827 1473-5717 |
| Statement of Responsibility: | Laforest, Caroline; Leibovitch, Igal; Selva, Dinesh; Crompton, John; Haan, Eric |
| Abstract: | We describe a male patient with ocular colobomata, cleft palate, polydactyly, panhypopituitarism and possible craniosynostosis, whom we have followed for 30 years. Although there are some similarities to other documented syndromes, this previously unreported combination of features appears to constitute a new syndrome. |
| Keywords: | Humans Cleft Palate Polydactyly Hypopituitarism Coloboma Abnormalities, Multiple Syndrome Facies Adult Male |
| DOI: | 10.1097/01.mcd.0000228427.79358.0b |
| Published version: | http://dx.doi.org/10.1097/01.mcd.0000228427.79358.0b |
| Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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