Hypomelanosis of Ito in a girl with plexus papilloma and transloction (X;17)
โ Scribed by Virginia P. Sybert; Roberta A. Pagon
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 100 KB
- Volume
- 93
- Category
- Article
- ISSN
- 0340-6717
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๐ SIMILAR VOLUMES
We report on an 8.5-year-old boy with hypomelanosis of Ito (HI) who has an abnormal MRI of the brain but is neurologically normal. There have been many reports of abnormal brain imaging studies in patients with HI, but all reported patients have had abnormal neurologic findings or symptoms. Our pati
Menkes disease is a rare X-linked recessive disorder of copper metabolism, characterised by progressive neurological degeneration, abnormal hair and connective tissue manifestations. We report on a girl with classic Menkes disease, carrying a de novo balanced translocation 46,X,t(X;13)(q13.3; q14.3)