Microcephaly, ptosis, strabismus, syndactily toes, global development delay in an Indian child- Probable Smith Lemli Opitz Syndrome (SLOS).

We report a 22 month old male patient with global developmental delay with Developmental Quotient (DQ) of 43, microcephaly, narrow forehead , right eye ptosis and superomedial strabismus, high arched narrow palate, depressed right angle of mouth, slight micrognathia, irregular upper gum with misaligned teeth, neck showing right torticollis, glandular hypospadias, syndactily 2nd to 5th toe in left and 2nd and 3rd toe in right feet, weight of 9 kg(< 5th percentile) and failure to thrive, convulsion. MRI head demonstrates gray matter heterotopias with dysplasia of overlying cortex of bilateral parieto-occipital region with mild ventriculomegaly. To our knowledge this anomaly reported previously as Smith Lemli Opitz Syndrome (SLOS). We consider our patient as a case of SLOS and he may need close follow up because over time there may be severe mental retardation and seizure.