Abstract
Smith–Lemli–Opitz syndrome (SLOS) is a syndrome of rare multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. Prior to receiving the diagnosis of SLOS, affected children may present as a neonatal surgical emergency with ambiguous genitalia, Hirschsprung’s disease, and pyloric stenosis. We present two fatal cases of SLOS with near-total Hirschsprung’s disease; the surgical, anaesthetic, and medical aspects of the cases are discussed, and a literature review is presented.
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Craigie, R.J., Ba’ath, M., Fryer, A. et al. Surgical implications of the Smith–Lemli–Opitz syndrome. Ped Surgery Int 21, 482–484 (2005). https://doi.org/10.1007/s00383-005-1415-8
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DOI: https://doi.org/10.1007/s00383-005-1415-8