Corpus Callosum Measurements Correlate With Developmental Delay in Smith-Lemli-Opitz Syndrome
2013; Elsevier BV; Volume: 49; Issue: 2 Linguagem: Inglês
10.1016/j.pediatrneurol.2013.03.015
ISSN1873-5150
AutoresRyan W.Y. Lee, Shoko Yoshida, Eun Sol Jung, Susumu Mori, Eva H. Baker, Forbes D. Porter,
Tópico(s)RNA modifications and cancer
ResumoSmith-Lemli-Opitz syndrome (SLOS) is a multiple malformation, neurodevelopmental disorder of cholesterol metabolism caused by mutations in 7-dehydrocholesterol reductase. Corpus callosum (CC) malformations and developmental delay are common, but the relation between the two has not been evaluated. This study hypothesizes shorter callosal length and smaller area correlate with higher serum 7-dehydrocholesterol and increased severity of neurodevelopmental delay in SLOS.
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