Smith-Lemli-Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939576 | PMC |
| http://dx.doi.org/10.1002/ccr3.6920 | DOI Listing |
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