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2015-04-17-20 Apert syndrome, 14 weeks © Andreeva 

Apert syndrome, 14 weeks

Elena Andreeva, MD.

Moscow regions Research Institute of Obstetrics and Gynecology, Medical-Genetics Department, Moscow, Russia.

Case report

A 25-year old woman (G2P1) with unremarkable family history and no exposure to teratogens was referred to our center at 14 weeks of gestation. Our ultrasonographic examination had revealed brachycephaly, acrocephaly, high forehead, flat face, and hypertelorism of the fetus. Mitten hands were also noticed. The findings were suspected of Apert syndrome. The parents opted for the termination of the pregnancy. Pathological examination and molecular study confirmed the diagnosis of the Apert syndrome of the fetus.

Images 1, 2, 3: The images show 2D scans of the fetal head with brachycephaly, hypertelorism and exophtalmos.


Images 4, 5: The images show 2D scans of syndactyly ("mitten hands").


Images 6, 7: 3D images of the fetus showing proptotic eyes, depressed nasal bridge, short, wide nose, turribrachycephaly (high prominent forehead), and low-set ears.


Images 8, 9, 10: Post-abortive images of the fetus with Apert syndrome (ocular hypertelorism, proptotic eyes, depressed nasal bridge, and short, wide nose, turribrachycephaly, low-set ears can be seen, and syndactyly of hands can be seen).


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