Smith-Lemli-Opitz syndrome

L Dudarewicz M Pasinska E Malunowicz M Krajewska-Walasek L Jakubowski M Grzesiak

Lech Dudarewicz, MD, PhD*; Magdalena Pasinska MD, PhD**; Ewa Malunowicz MD, PhD***; Malgorzata Krajewska-Walasek MD, PhD****; Lucjusz Jakubowski MD, PhD*; Mariusz Grzesiak MD, PhD*****.

*      Department of Genetics, Polish Mother’s Memorial Hospital, 281/289 Rzgowska St., 93-338 Lodz, Poland;
**¬†¬†¬†¬† Department of Genetics, The Ludwik Rydygier Collegium Medicum in Bydgoszcz of the Nicolaus Copernicus University in Toru√Ī, Bydgoszcz, Poland;
***    Department of Laboratory Diagnostics, The Children"s Memorial Health Institute, Warsaw, Poland
****   Department of Clinical Genetics, The Children"s Memorial Health Institute, Warsaw, Poland;
*****  Department of Maternal-Fetal Medicine,  Polish Mother’s Memorial Hospital Lodz, Poland.


Case report

A patient was referred to our institution in the 33rd week of gestation with the preliminary diagnosis of multiple congenital anomalies. Scanning revealed:

  • Moderate oligohydramnios (AFI=7 cm);

  • Heart defect (atrioventricular canal);

  • Polydactyly¬†of hands and feet;

  • Suspicion of horseshoe kidney with pyelectasia and abnormal origin of one of the renal arteries (the right one more anteriorly);

  • Small stomach;

  • Abnormal position of the feet;

  • Camptodactyly of fingers;

  • Abnormal facial profile with micrognathia and thickened prenasal skinfold, markedly thickened nuchal skinfold, moderate hypertelorism;

  • Moderate shortening of the long bones;

  • Moderate IUGR;

  • Pulmonary hypoplasia was suspected.

The baby was born breech (which is rather typical of the fetuses with this disorder) and the findings were confirmed. Additionally ambiguous genitalia and dysplastic ears were identified and the normal male karyotype was ascertained. The baby"s serum steroid profile was abnormal, confirming the diagnosis of Smith-Lemli-Opitz syndrome.

Of interest is the fact, that in the case of fetal abnormalities suggestive of Smith-Lemli-Opitz syndrome, there is a non-invasive test of maternal urine readily available, allowing the diagnosis in the early second trimester by maternal urinary steroid profile.

In our case, diagnosed in the third trimester this test was not performed as it wouldn"t have influenced further obstetrical care.

Images 1, 2: 33 weeks of pregnancy; Image 1 shows fetal profile with abnormal prenasal skinfold. Image 2 shows transverse scan through the fetal head with abnormal nuchal skinfold.


Images 3: 33 weeks of pregnancy; Image shows the coronal plane through the fetal orbits. Slight hypertelorism is visible.


Images 4, 5: 33 weeks of pregnancy; Images show the four-chamber view of the heart with atrioventricular septal defect.


Images 6, 7: 33 weeks of pregnancy; Images show parasagittal and transverse view of the fetal trunk with small stomach.


Images 8, 9: 33 weeks of pregnancy; Image 8 shows abnormal position of the fetal foot. Image 9 shows a fetal foot with polydactyly (red arrow points to the additional toe).


Images 10, 11: 33 weeks of pregnancy; Image 10 show abnormal position of the fetal fingers. Image 11 shows postnatal appearance of the hand.


Images 12, 13: Postnatal appearance of the neonate.


Images 14, 15: Postnatal appearance of the neonate.


Images 16, 17: Postnatal appearance of the neonate"s feet with polydactyly.


Image 18: Postnatal appearance of the ambiguous genitalia.



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