Impacted foreign bodies in the faciomaxillary region: a multidisciplinary approach.

A man in his 20s came for maxillofacial consultation with a pus discharge from the left preauricular region for the last 1 year. He had met with a road traffic accident 2 years earlier and had received surgical treatment for injuries associated with the same. Investigations revealed multiple impacted foreign bodies deep within his facial structures. Successful surgical removal of the objects required a multidisciplinary effort between maxillofacial surgeons and otorhinolaryngologists. Complete removal of all the impacted wooden pieces was done through a combined endoscopic and open preauricular approach. The patient made a rapid recovery postoperatively with minimal complications.

Cathepsin K Mutation-A Subtle Clinical Presentation.

Context: Pyknodysostosis is an uncommon inherited disorder associated with consanguinity, often presenting with sclerotic bone disease, short stature, dysmorphic features, and recurrent fragility fractures at an early age. Case: A 34-year-old woman was evaluated for the cause of recurrent fragility fractures. She was born of a third-degree consanguineous marriage and had a twin brother who was of short stature. The index patient had a height of 141 cm, dysmorphic features including frontoparietal bossing, blue sclera with short stubby fingers and toes. Radiological evaluation revealed diffuse osteosclerosis with acro-osteolysis exclusively in the toes, apart from mid-facial hypoplasia, lack of pneumatization of the paranasal sinuses, dental abnormalities, and scoliosis. Dual-energy x-ray absorptiometry revealed increased bone mineral density. Based on the clinical features, the patient was tested for cathepsin K gene variants using next-generation sequencing and was found to be positive for a novel homozygous c.224T>C, p.Met75Thr likely pathogenic missense variant. Discussion: This patient presented at a later age than expected with recurrent fragility fractures and the diagnosis was not suspected till adulthood, owing to the subtle clinical features. Confirmation with genetic testing helped in establishing the diagnosis. Conclusion: Pyknodysostosis, although uncommon, is one of the differential diagnoses for diffuse osteosclerosis presenting with recurrent fragility fractures. Next-generation sequencing in an appropriate setting may confirm the diagnosis.

A Novel Technique To Correct Multiplanar Maxillary Hypoplasia.

Dental malocclusion and facial deformity are frequent observations in patients with clefts of the orofacial region. These patients have a low self perception secondary to their aesthetic appearance. Cleft palate patients are further affected in their speech and oral function with direct impediment to their quality of life. Early identification and treatment in cleft lip and palate patients may directly enhance their overall well being and productivity with sustainable prognosis when managed by skilled and evidence informed operators. We present a successful case management of a patient with a cleft palate and dentofacial deformity with a past surgical history, treated with an anterior maxillary advancement osteotomy, stabilized with an interpositional non vascular iliac bone graft. The posterior open bite was corrected using overlay full coverage crowns. Both these techniques are rarely reported in the literature. The procedure positively improved the quality of life in our patient with regards to her aesthetics, speech and function. This treatment approach could be considered in similar cases to achieve predictable outcomes.

Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann's Thrombasthenia with Chronic Gingival Bleed: Case Report.

Glanzmann's Thrombasthenia (GT) is a rare autosomal recessive bleeding disorder affecting the megakaryocyte lineage and is characterized by lack of platelet aggregation on stimulation. The molecular basis is linked to quantitative and qualitative abnormalities of αIIbß3 integrin. Most of the patients with severe Glanzmann's thrombasthenia have spontaneous gum bleeding and persistent low haemoglobin levels. Often these patients are addressed with local haemostatic measures and platelet coverage. We report a case of a severe Glanzmann's thrombasthenia with chronic gingivitis and associated spontaneous gum bleed with chronic low haemoglobin levels, managed subsequently with total dental extraction under appropriate platelet and recombinant factor VIIa coverage. Further follow up of the patient substantiated the treatment protocol with increased and stable haemoglobin levels, thus emphasizing the need for total dental extraction in patients with severe Glanzmann's with chronic spontaneous gum bleed, as a definitive treatment option, which has not been reported so far in the literature.