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Articles » Face and neck » Cleft Lip » Cleft lip associated with cleft palate
2010-05-27-14 Midline facial cleft © Clavelli

Midline facial cleft

Adrian Clavelli, MD.*, Daniel Cafici, MD.**, Florencia Petracchi, MD.*, Francisco M. Vizcaino, MD.*, Ana Iglesias, MD**, David Chitayat, MD**

*  Departamento de Ginecología y Obstetricia. Centro de Educación Médica e Investigaciones Clínicas. CEMIC. Buenos Aires, Argentina.
** Department of Pediatrics and Medical Genetics. The Hospital for Sick Children. Toronto, Canada.

Case report

This is a case of a 28-year-old G2 P0 with one spontaneous abortion in the previous pregnancy. Her personal and family history were both non-contributive. The ultrasound examination at 22 weeks of gestation showed large midline and lateral facial cleft. The cleft involved lip, maxilla, nose, forehead and partially orbit as well. 
There was a cardiac anomaly, suspicious of Tetralogy of Fallot.
Left hand had a preaxial polydactyly.
Amniocentesis was performed with a normal karyotype, 46 XY. DNA microarray was done in Canada with normal result.

Facial cleft is an anomaly which can be isolated or present as a part of the syndrome. The prognosis depends on the range of the affected area. We have not found any particular syndrome which would include all our ultrasound findings. Our final diagnosis was a severe frontonasal dysplasia associated with cardiopathy.

Images 1,2: Sagittal view of the fetus, note the facial abnormality.

Images 3,4: Image 3 shows a facial cleft. Image 4 of the fetal heart, there was a cardiac anomaly detected, very likely a Tetralogy of Fallot.

Images 5,6: Image 5 shows preaxial polydactyly, note the arrow. Image 6 shows a 3D reconstruction of the fetal face, note a large cleft.

Images 7,8: 3D reconstruction of the fetal face showing a midline facial cleft.

Images 9,10: Images of the neonate, midline cleft corresponds with the 3D ultrasound images.

Images 11: Left hand with preaxial polydactyly as seen on the ultrasound.

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