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• W2063661453 abstract "A midline cleft lip and palate was detected at the time of the routine second-trimester anomaly scan in the first pregnancy of a Caucasian woman. The parents were non-consanguineous. Further detailed scanning demonstrated abnormal posturing of the fingers, which remained flexed. An amniocentesis was performed, revealing a normal female karyotype. The parents were advised that, despite the normal karyotype, there might be some more serious underlying pathology. In the absence of a definitive diagnosis the parents elected to continue the pregnancy. No other problems were identified until 32 weeks of gestation, when severe bilateral pleural effusions, marked skin edema, mild ascites, polyhydramnios and mild relative microcephaly (head circumference just < 5th percentile and femur length on 50th percentile) with a small cerebellum (< 5th percentile) were seen. In addition, an unusual mass was identified apparently floating in the amniotic cavity close to the right hand. Closer examination at the tertiary center demonstrated a fine connection from the mass to the ulna side of the hand (Figure 1), suggesting that this was a postaxial digit, grossly swollen secondary to the generalized hydrops. It was thought likely that there was 2–3 syndactyly of the toes. These findings suggested an underlying genetic syndrome. The identification of the polydactyly along with the other findings made Smith-Lemli–Opitz (SLO) syndrome Type II (the severe perinatally lethal form) the most likely diagnosis. After discussion of the poor prognosis and possible diagnosis, the parents decided to have further invasive testing. The right pleural effusion was aspirated under ultrasound guidance and 20 mL amniotic fluid aspirated and sent to the laboratory with maternal urine for assessment of 7-dehydrocholesterol and dehydrosteroid metabolites, respectively. The results confirmed the diagnosis of SLO. The parents decided to terminate the pregnancy and elected for feticide as they did not wish the baby to be born alive. Postnatal examination confirmed the prenatal findings and also demonstrated 4–5 syndactyly of the fingers. Further biochemical analysis of the fetal tissues confirmed the diagnosis of SLO. The parents were advised of the 1 : 4 recurrence risk for future pregnancies and early prenatal diagnosis using a combination of maternal urinalysis and chorionic villus sampling was discussed. Image showing the edematous postaxial digit. SLO syndrome is a genetic syndrome, inherited in an autosomal recessive fashion, resulting from a mutation in the 7-dehydrocholesterol reductase (7DHC) gene on chromosome 7q321, 2. This causes an abnormality in cholesterol biosynthesis resulting in hypocholesterolemia with elevated levels of 7DHC. It is the high levels of 7DHC which are thought to have the teratogenic effects3. The clinical spectrum of individuals with SLO ranges from those with developmental delay and mild dysmorphic features to those with major structural defects with early or prenatal lethality. Features found in the severe lethal form include postaxial polydactyly, syndactyly of fingers and toes, facial clefts, cerebellar hypoplasia4 and late onset of hydrops associated with severe pleural effusions5 (Table 1). A wide variety of other findings including increased nuchal translucency, cataracts, renal anomalies, ambiguous genitalia in males, holoprosencephaly and cardiac anomalies have also been reported4. Early prenatal diagnosis in families at known increased risk can be offered either using molecular methods if the mutation is known, or by analysis of 7DHC activity in chorionic villi or amniotic fluid. More recently, gas chromatographic and mass spectrometric analysis of maternal urine from women carrying a fetus with SLO have reliably shown high levels of dehydroestriol and dehydropregnanetriol, suggesting that this may allow non-invasive prenatal diagnosis in cases at high risk6. Recognition of the sonographic features associated with this lethal condition can assist in accurate antenatal diagnosis, even in those pregnancies at low prior risk, by indicating the need to measure the cholesterol metabolites." @default.
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• W2063661453 date "2004-05-26" @default.
• W2063661453 modified "2023-09-27" @default.
• W2063661453 title "Edematous polydactyly in Smith-Lemli-Opitz syndrome Type II" @default.
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• W2063661453 doi "https://doi.org/10.1002/uog.891" @default.
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