Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.

Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly without significant deformities in the long bones. DASS (Dental Abnormalities and Short Stature), caused by alterations in the LTBP3 gene, was previously considered as a subtype of brachyolmia. The present study investigated three unrelated consanguineous families (A, B, C) with Brachyolmia and DASS from Egypt and Pakistan. In our Egyptian patients, we also observed hearing impairment. Exome sequencing was performed to determine the genetic causes of the diverse clinical conditions in the patients. Exome sequencing identified a novel homozygous splice acceptor site variant (LTBP3:c.3629-1G > T; p. ?) responsible for DASS phenotypes and a known homozygous missense variant (CABP2: c.590T > C; p.Ile197Thr) causing hearing impairment in the Egyptian patients. In addition, two previously reported homozygous frameshift variants (LTBP3:c.132delG; p.Pro45Argfs*25) and (LTBP3:c.2216delG; p.Gly739Alafs*7) were identified in Pakistani patients. This study emphasizes the vital role of LTBP3 in the axial skeleton and tooth morphogenesis and expands the mutational spectrum of LTBP3. We are reporting LTBP3 variants in seven patients of three families, majorly causing brachyolmia with dental and cardiac anomalies. Skeletal assessment documented short webbed neck, broad chest, evidences of mild long bones involvement, short distal phalanges, pes planus and osteopenic bone texture as additional associated findings expanding the clinical phenotype of DASS. The current study reveals that the hearing impairment phenotype in Egyptian patients of family A has a separate transmission mechanism independent of LTBP3.

Peripheral Giant Cell Granuloma of Posterior Maxilla in a 9-Year Child.

Peripheral giant cell granuloma is a relatively uncommon benign reactive gingival lesion of the oral cavity. A 9-year boy presented with a painless, slow-growing, reddish-blue, soft tissue lesion on attached gingiva adjacent to maxillary right first and second premolars, which was interfering with eating. A periapical radiograph demonstrated focal alveolar bone loss and slight teeth displacement adjacent to the lesion. Diagnosis of peripheral giant cell granuloma was made through clinical and radiographic evaluation, by its typical presentation and correlation with histopathologic findings. Complete excision was carried out down to the underlying bone. A follow-up visit was scheduled after 7 days and deep scaling was performed. There was no recurrence three months post-excision. Timely detection and excision of this lesion is important to avoid future dentoalveolar problems. Key Words: Giant cell granuloma, Benign, Peripheral, Child.

Congenital Isolated Bilateral Soft Tissue Syngnathia In A 4-Day Old Baby Boy.

Congenital maxillomandibular syngnathia is characterized by fusion of jaws. Depending on the severity, it has a wide range of clinical presentations. It can be complete /incomplete and may be unilateral or bilateral. Primary concern in such patients is maintenance of airway and feeding difficulties. Therefore, early recognition and management is important to reduce nutritional, feeding, airway difficulties and growth-related problems in such new-borns. This case report presents a case of syngnathia in a 4-day infant with bilateral fusion of maxilla and mandible, leaving a small anterior portion. Early intervention was planned and the fusion was released to facilitate feeding. Good mouth opening was seen on 1week follow-up.

Compound odontoma in a nine-years-old boy associated with impacted permanent central and lateral incisor - a case report.

Odontomas are one of the most common tumours of odontogenic origin. They are usually asymptomatic but may be associated with retained primary teeth or missing permanent teeth. Though the exact aetiology is unknown, the postulated causes include trauma, infection, inheritance and genetic mutation. Early diagnosis and management will result in fewer complications. Conservative surgical excision is the treatment of choice. This case report presents a treated case of compound odontoma associated with delayed eruption of the permanent central incisor in a nine-yearsold boy.