Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

Abstract

Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

Mandibulofacial dysostosis (Treacher‐Collins syndrome) in the fetus: Novel association with pectus carinatum in a molecularly confirmed case and review of the fetal phenotype

“…In that case, the unusual coexistence of a very severe transverse facial cleft and bilateral auricular appendages, prompt us to suppose that Pereira's case could reflect a more complex gene rearrangement caused by microchromosomal defects. The sign of a "golf ball" heart was also seen by echocardiography in the same patient (Pereira et al, 2013); however, subsequent detailed prenatal and postnatal examination failed to reveal any structural or functional cardiac abnormality. The association of mandibulofacial dysostosis with a tracheoesophageal fistula in the case described by Hsu et al (2002) casts doubt on the diagnosis of TCS, and raises the probability of an EFTUD2 gene mutation, as recently described by Gordon and collaborators (2012).…”

“…Protruding eyes, noted in our case, are also described by other authors and attributed to shallow orbits. The infant described by Pereira et al (2013) exceptionally had bilateral anophthalmia. In that case, the unusual coexistence of a very severe transverse facial cleft and bilateral auricular appendages, prompt us to suppose that Pereira's case could reflect a more complex gene rearrangement caused by microchromosomal defects.…”

Prenatal diagnosis of isolated lateral facial cleft by ultrasonography and three-dimensional printing: A case report

“…In addition to the facial sulcus, Tessier No. 7 facial clefts may present with or without other facial deformities, which can involve the external ear and other internal tissues such as the tongue, glands, and nerves[ 15 ]; additionally, bony deformities are commonly combined, including malformation of the zygoma, maxilla, and their attachments[ 7 , 17 ]. Woods et al [ 18 ] proposed a classification focused on the abnormalities of maxillary cleft or duplication at the molar area of the maxilla.…”

A Case of Treacher Collins Syndrome

“…The only criteria that could not be assessed with respect to its similarity is speech development, which could not be evaluated in our patient due to her age. In the prenatal period, both mothers had a history of polyhydramnion, which is a common finding in pregnancies where a newborn is diagnosed with TCS [ 11 – 13 ]. For this reason, in pregnancies in which the mother experiences polyhydramnion and findings on ultrasound imaging are abnormal for the facial anatomy, the obstetrician may take the possibility of TCS into consideration.…”