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https://www.um.edu.mt/library/oar/handle/123456789/92949| Title: | Co‐morbid palmoplantar keratoderma type 1A and Loeys‐Dietz Syndrome type 3 in a patient with a chromosome 15 microdeletion |
| Authors: | Mintoff, Dillon Pace, Nikolai Paul Al-Kawlani, Boodor Bauer, Peter Borg, Isabella |
| Keywords: | Loeys-Dietz Syndrome Connective tissues -- Diseases -- Genetic aspects Chromosomes -- Analysis Molecular diagnosis |
| Issue Date: | 2022 |
| Publisher: | Wiley-Blackwell Publishing Ltd. |
| Citation: | Mintoff, D., Pace, N. P., Al‐Kawlani, B., Bauer, P., & Borg, I. (2022). Co‐morbid palmoplantar keratoderma type 1A and Loeys‐Dietz Syndrome type 3 in a patient with a chromosome 15 microdeletion. Journal of the European Academy of Dermatology and Venereology, 1-3. |
| Abstract: | A 17-year-old boy of Maltese Caucasian ethnicity (the proband) was referred to the genetics clinic in view of spontaneous retinal detachment. On examination, he was noted to have tall stature, arachnodactyly, pectus excavatum, pes planus, a high arched palate, dental malocclusion and high myopia. Small punctate keratoses were visualised on the soles of both feet but not on the palms. Subsequent dermoscopic examination of the palms revealed punctate lesions ranging in diameter from 0.5 to 1.0 mm |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/92949 |
| Appears in Collections: | Scholarly Works - FacM&SAna |
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