Differential diagnosis of Smith–Magenis syndrome: 1p36 deletion syndrome
✍ Scribed by Gustavo H. Vieira; Jayson D. Rodriguez; Raquel Boy; Isaias Soares de Paiva; Barbara R. DuPont; Danilo Moretti-Ferreira; Anand K. Srivastava
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 142 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic
We report on a 22-year-old woman carrying a del(17)(p11.2p12) and presenting with the clinical manifestations of both Smith-Magenis syndrome (SMS) and Joubert syndrome (JS). Her facial anomalies, brachydactyly, severe mental retardation, and selfinjuring behavior could be attributed to SMS, whereas
We present the results of ophthalmologic assessment in 10 patients with interstitial chromosome deletions of 17~11.2, otherwise known as the Smith-Magenis syndrome (SMS). The most common abnormalities noted were strabismus, Brushfield spots, high myopia, and retinal detachments. We have previously r