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2007-12-22-02 Answer to the case of the week #217 © Guerrero

Answer to the case of the week #217

April 24, 2008 - May 8, 2008

Luis Guillermo Diaz Guerrero, MD.

Unidad de Diagnostico Perinatal / CEUSP - Valencia - Venezuela.


Case report

This is a case where a genetic history of the mother led us to search for tiny fetal details which enabled us to confirm the same diagnosis of the fetus as its mother had. The mother had four children (two boys and two girls) with two different men. All children have the same X-linked diagnosis as the mother - the Barber-Say syndrome

The following images show 32 weeks scans of the fetus. Its growth was normal and we could observe some irregularities in the eyelids, broad nose, "fish like" appearance of the fetal mouth, low anterior border of the fetal hair (the line went close to the nose with hypertrichosis of the forehead).

Postnatally the diagnosis was confirmed. The baby also had macrostomia and rudimentary nipples.

Images 1, 2: The images show fetal face. Tiny defect of the eyelids can be seen.


Images 3, 4: The images show transverse scans of the fetal head. A hypertrichosis can be seen above the frontal bone.


Images 5, 6: Sagittal scans of the fetal head. A hypertrichosis above the frontal bone can be seen.


Image 7: Postnatal appearance of the baby.

Image 8: Detailed views of the mother"s face.

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