We report the seventh case of Mulvihill-Smith progeria-like syndrome in a 5-year-old boy with a thin, pinched face, failure to thrive, and cutaneous pigmented nevi. The patient's motor and intellectual development were normal. His immune function tests demonstrate evidence of lymphopenia with no sel
✦ LIBER ✦
Case report: Adult phenotype of Mulvihill–Smith syndrome
✍ Scribed by Tatsuhiko Yagihashi; Motoichiro Kato; Kosuke Izumi; Rika Kosaki; Kaori Yago; Kazuo Tsubota; Yuji Sato; Minoru Okubo; Goro Watanabe; Takao Takahashi; Kenjiro Kosaki
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 103 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal recessive multiple malformation/mental retardation syndrome initially described by Smith et al. [1964] that is due to a defect in cholesterol biosynthesis. The behavioral phenotype of Smith-Lemli-Opitz syndrome demonstra