No abstract

Cleidocranial dysplasia is a well-documented rare congenital disorder of the bone characterized by abnormalities of the skull, clavicle, and dentition. Despite numerous observations, there are still comparatively few reports regarding patients with cleidocranial dysplasia that focus on the impact of reconstruction of these defects on facial aesthetics. We report a 19-year-old woman with opened metopic and sagittal sutures and delayed closure of the anterior fontanelle. Through bicoronal incision and pericranial elevation, the defect was fully exposed. BoneSource was used to fill the cranial defect and was contoured to the desired cosmetic outcome. During a 24-month follow-up period, no absorption or recurrence was seen, and the patient was satisfied.

A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD reported to have pericardial effusion. Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 polymorphisms (c.IVS3+6A>G, c.-77G>A, c.-78C>T, and p.S95S) were identified in the patient.