Two cases of Smith-Lemli-Opitz syndrome type II are presented. During the late stages of both pregnancies maternal oestriol levels were unrecordable and there was evidence of suppression of maternal adrenal fimction. We speculate on the existence of a primary defect in the fetal adrenals.Smith-Lemli-Opitz syndrome type II (SLO II) is a rare and recently delineated lethal malformation syndrome, which is believed to show autosomal recessive inheritance.' 2 Two affected infants are described, each of whom first gave cause for concern because of an abnormal maternal urinary steroid profile during late pregnancy. Case reports C-ASE 1A phenotypically female infant weighed 1890 g (<3rd centile) after delivery at 38 weeks' gestation and died at 4 hours of age. Obvious external anomalies included an abnormal facies with anteverted nares and micrognathia, a small tongue, low set ears, short neck, short limbs, and small thumbs. The feet showed bilateral talipes calcaneovalgus with 2/3 syndactyly and right sided postaxial polysyndactyly. At necropsy, seminal vesicles and testes were present, the kidneys were noted to be small, and both lungs were found to be unilobular. Blood lymphocytes and fibroblast cultures showed a normal male karyotype. A fuller description of the clinical findings in this baby has been presented elsewhere.3

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