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2007-09-05-10 Answer to the case of the week #210 © Volkov

Answer to the case of the week #210

January 17, 2008 - January 31, 2008

Andrey Volkov, MD, PhD*; Elena Andreeva, MD**; Alexander Rymashevsky, MD, PhD***.


Department of Obstetric and Gynecology. Rostov Medica University, Rostov on Don, Russia;


Medical Genetic Center, Gomel, Belarus;


Maternity Hospital 5, Rostov on Don, Russia.


Case report

A 26-year old G1P0 from a nonconsanguineous couple (husband 35 years old), with noncontributive history, presented to our unit at 30 weeks of pregnancy. Our ultrasound examination revealed following findings:

  • Cloverleaf shaped skull;
  • Lobar holoprosencephaly;
  • Syndactyly and broad thumbs;
  • Exophtalmia and hypertelorism;

The diagnosis of Pfeiffer syndrome (type II) was proposed. The neonate was delivered at 32nd week after premature rupture of membranes (1800 g; 39 cm; Apgar 1, 3) and died early after delivery. Pathological study confirmed the diagnosis.

Images 1, 2: 30 weeks of pregnancy; Image 1 shows cloverleaf shaped fetal skull. Image 2 shows transverse scan through the fetal skull with lobar holoprosencephaly.


Images 3, 4: 30 weeks of pregnancy; Image 3 shows coronal scan through the fetal face with hypertelorism and exophtalmus. Image 4 shows detailed view of the fetal orbits with hypertelorism.


Images 5, 6: 30 weeks of pregnancy; Images show syndactyly and broad thumbs of the hands.


Images 7, 8: Postnatal X ray images of the skull; Image 7 shows cloverleaf shaped appearance of the skull.


Images 9, 10: Postnatal X ray image of the fetal hand and feet. Image 10 show broad thumb of the hand.


Images 11, 12: Postnatal appearance of the hands.


Image 13: Postnatal image of the neonate.


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