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.