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Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC)

Elena Andreeva, MD

Article Published: Dec 15, 2014

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


Case report

A 36-year-old woman (G2P1), with one healthy child, was sent to our institute at 35 weeks of gestation. Our ultrasonographic examination found an interesting anomaly, demonstrated by the following images.


Images 1, 2: Image 1 - 35 weeks; 3D image showing cleft lip and palate of the fetus; Image 2 - postnatal appearance of the child with cleft lip and palate at 3 months of age.

Fig01
Fig02


Images 3, 4: Image 3 - 35 weeks; 3D image showing ectrodactyly of fetal hands; Image 4 shows postnatal appearance of the hand with ectrodactyly (3 months of age).

Fig03
Fig04


Images 5, 6, 7: Images 5, 6 - 35 weeks; 2D and 3D images showing ectrodactyly of fetal foot; Image 7 shows postnatal appearance of the foot with ectrodactyly (3 months of age).

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Images 8, 9: Mother's phenotype with ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome shows dry, brittle hair, dry skin of the face, dropping corners of the mouth, and ectrodactyly.

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Fig08


Image 10: Genetic ancestry of the family with ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.
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Image 11: The baby boy was born at term (3300 g, 52 cm, Apgar 7/9). The image shows the baby after surgery of the cleft lip and palata at three months of age.

Fig11

 

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