A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.

BACKGROUND: Gorlin-Chaudhry-Moss syndrome (GCMS) and Fontaine-Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carrier family 25 member 24 (SLC25A24) gene was suggested to be the common genetic basis of both syndromes, it has been proposed recently that they be integrated into a single disorder under the name of Fontaine progeroid syndrome (FPS). CASE PRESENTATION: A 9-year-old Korean girl presented with typical clinical features of FPS. She had generalized loose skin with decreased subcutaneous fat, skin wrinkling on the forehead and limbs, skull deformities and a peculiar facial appearance with microphthalmia and midface hypoplasia, anomalies of the digits and nails, a large umbilical hernia and a nearly normal developmental outcome. She exhibited prenatal and postnatal growth retardation together with short stature, and records showed that her height and weight were invariably under - 2.0 SD from birth to the age of 10 years. SLC25A24 analysis revealed a heterozygous mutation reported previously, NM_013386:c.650G > A, p.[Arg217His]. After screening her family for the identified mutation, she was confirmed as being a de novo case of FPS caused by an SLC25A24 mutation. CONCLUSION: We describe a Korean girl with typical clinical findings of FPS and a de novo mutation in SLC25A24, as well as 10 years of clinical follow-up, including growth and developmental achievements.

Prediction of the midtracheal level based on external anatomical landmarks: implication of the optimal insertion depth of endotracheal tubes in pediatric patients.

BACKGROUND: Optimal positioning of endotracheal tubes (ETTs) decreases the risk of accidental extubation or endobronchial intubation. This study evaluated the usefulness of external anatomical landmarks as practical references for determining an insertion depth of an ETT in pediatric patients. METHODS: Computed tomography images of the necks of 183 pediatric patients (≤16 years of age) were reviewed. Levels corresponding to the vocal cords, cricoid cartilage, suprasternal notch, manubriosternal junction, and carina were identified on sagittal reconstructed images. The surface measurements from the cricoid cartilage to the suprasternal notch and that from the suprasternal notch to the manubriosternal junction were determined. Bland-Altman analysis was used to interpret the relationship between the midtracheal level and the surface measurements. RESULTS: The difference between the midtracheal level and the surface distance from the cricoid cartilage to the suprasternal notch was 3.5 ± 7.0 mm, which was closer to zero than that between the midtracheal level and the surface distance from the suprasternal notch to the manubriosternal junction of 15.1 ± 6.1 mm. CONCLUSION: The midtracheal level, helpful in planning the insertion depth of an ETT, can be predicted by measuring the surface distance from the cricoid cartilage to suprasternal notch in pediatric patients.