Traumatic bone cyst of the mandible in Langer-Giedion syndrome: a case report

Abstract

Introduction: Langer-Giedion syndrome (trichorhinophalangeal syndrome type II) is an extremely rare disorder characterized by dysmorphic facial features, multiple exostoses, mental retardation and digit deformities. We report the first case of any maxillofacial pathology in such a syndromic patient.

Case presentation: A 22-year-old Indian woman with mild intellectual disability presented with malaligned teeth. Routine radiographic screening demonstrated a large multilocular lesion in her right mandible. She had peculiar features such as short stature, short limbs, brachydactyly, and dysmorphic facial characters, which prompted us to evaluate her further. After findings of multiple bony exostoses she was diagnosed with Langer-Giedion syndrome. On surgical exploration of her right mandibular lesion an empty cavity was found suggestive of traumatic bone cyst. The lesion healed completely after 1 year without loss of vitality of any teeth.

Conclusions: Although diagnosis and management of any maxillofacial pathology can be challenging in syndromic patients, our report suggests a possible correlation between traumatic bone cyst and Langer-Giedion syndrome. Clinicians should routinely screen these patients for any undetected maxillofacial pathology. In future cases of this syndrome, one should consider the possibility of traumatic bone cyst which may not require aggressive surgical management.

Figure 1

Bony exostoses arising from multiple bones. Exostoses (black arrows) seen on A) bilateral hand-wrist radiograph, B) right arm and shoulder radiograph, C) pelvis radiograph, and D) right knee and ankle radiograph.

Figure 2

Preoperative orthopantomogram showing a well-defined irregular multiloculated radiolucency in right half of mandible. Note the developing third molars in all quadrants.

Figure 3

Computed tomography scan showing a multilocular lytic lesion with mild expansion of buccolingual cortices and well-defined borders.

Figure 4

Postoperative radiograph showing complete bone formation in the lesion at 1 year of follow-up.