Imaging Sci Dent.  2019 Dec;49(4):323-329. 10.5624/isd.2019.49.4.323.

Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features

• Kim JJ
• Choi DS
• Jang I
• Cha BK
• Park IW

• KMID: 2466556
• DOI: http://doi.org/10.5624/isd.2019.49.4.323

Abstract

Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and airway obstruction. PRS does not have a single pathogenesis, but rather is associated with multiple syndromes. This report presents the case of a 35-year-old woman with PRS and scoliosis. Among the syndromes related to PRS, cerebro-costo-mandibular syndrome (CCMS), which is characterized by posterior rib gap defects and vertebral anomalies, was suspected in this patient. However, no posterior rib gap defect was detected on radiological examinations. Although over 80 cases of CCMS have been reported to date, few cases of PRS with scoliosis alone have been reported. Therefore, this report demonstrated the clinical, radiological, and cephalometric characteristics of an adult patient with PRS and scoliosis, but without rib anomalies.

Keyword

Pierre Robin Syndrome; Scoliosis; Micrognathism

MeSH Terms

Adult*
Airway Obstruction
Female
Glossoptosis
Humans
Micrognathism
Pierre Robin Syndrome*
Ribs
Scoliosis*

Figure

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  Fig. 1 Intraoral photos of the patient show an anterior open bite and a Class II canine relationship.

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  Fig. 2 A. Tongue-tie restraining the forward and upward movement of the tongue. B. Soft palate scar caused by palate surgery.

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  Fig. 3 A panoramic radiograph reveals deep antegonial notches, posterior bowing, and a small anteroposterior width of the bilateral condyles.

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  Fig. 4 A lateral cephalogram shows a small and retruded mandible, a large inclination of the mandibular plane, and a narrow airway.

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  Fig. 5 Superimposition of the profilograms of the patient (dotted) and normal control (solid) shows severe micrognathia and a large mandibular plane angle.

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  Fig. 6 Cone-beam computed tomography (CBCT) images. A-D. Three-dimensional reconstructed CBCT images demonstrate mandibular retrusion, asymmetry, and low-set ears. E and F. Coronal and axial CBCT images of the posterior soft palate area show discontinuity of the nasal septum. Note the lack of soft tissue in the posterior nasal spine area.

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  Fig. 7 A posteroanterior chest radiograph shows severe scoliosis and the presence of titanium rods without any signs of posterior rib gap defects.

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