Figure 3.183. In the Smith-Lemli-Opitz syndrome the infants are small for their gestational age with a mean birthweight of 2560 g at term, commonly present as breech presentations, and have mental retardation. This is a female infant, but male infants predominate. There is microcephaly with moderate scaphocephaly, bilateral ptosis, low-set ears, a broad nasal tip with anteverted nostrils, and mild micrognathia. Other findings that may occur are an antimongoloid slant and epicanthic folds of the eyes.
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