SPR Unknown Case # 87 -- FINAL

Fetal Imaging Committee

Society of Pediatric Radiology

Keywords

spr unknown 87


Publication Date: 2013-04-30

History

Polyhydramnios

Findings

Fetal MRI: There is severe micrognathia. The soft palate and posterior part of the hard palate are absent. The tongue is displaced upwards into nasal cavity. The pinnae are low-set and malformed. MRI nicely demonstrates that the external auditory canals are absent, but the inner ear structures are present and symmetric.

Diagnosis

Treacher-Collins Syndrome

Discussion

Micrognathia leading to upwards displacement of the tongue and failure of formation of the secondary palate is known as the Robin sequence. The coexistent symmetric malformation of the first branchial cleft derivatives (as well as the already malformed first branchial arch derivatives i.e. mandible & maxilla) allows further subcategorisation into Treacher-Collins syndrome. Impaired swallowing function due to palatal clefting is one of the causeses of polyhydramnios. As the inner ear structures almost always normal, hearing loss is conductive only and therefore treatable.

Files

5 images