Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report.

We report the case of a 14-year-old girl that was referred to the maxillo facial surgery unit at age 11 years because she exhibited swelling in the right side of her maxilla and right mandible. After a conservative surgery, she started with interferon alpha-2a to avoid recurrence. She has remained in treatment with successful results during her follow up. Considerable reduction of both maxilla and mandible lesions and bone fill have been documented. In addition, her clinical history and phenotype were suggestive of Noonan syndrome. She has short stature, broad and short neck; hypertelorism (increased distance between the eyes); downslanting palpebral fissures; sparse eyebrows and eyelashes; posteriorly rotated ears with fleshy lobes; follicular keratosis over the face, and developmental delay. Her karyotype was 46, XX. Molecular analysis of RAS/MAPK pathway genes showed a SOS1 amino acid substitution of arginine to lysine at position 552 (p.R552K). This case presents the infrequent condition of Noonan syndrome with multiple giant cell lesions (NS/MGCL) that would be the first patient as far as we know treated with surgery and interferon alpha-2a for her giant cell lesions.

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.

AIM: Léri-Weill dyschondrosteosis (LWD) is a mesomelic dysplasia with disproportionate short stature associated with short stature homeobox-containing gene (SHOX) haploinsufficiency. The objective of this study was to improve the diagnosis of patients with suspected LWD through molecular analysis. METHODS: Twelve patients from 11 families with a clinical diagnosis of LWD were analyzed with multiplex ligation-dependent probe amplification to detect deletions and duplications of SHOX and its enhancer regions. High resolution melting and sequencing was employed to screen for mutations in SHOX coding exons. RESULTS: The molecular-based screening strategy applied in these patients allowed detection of five SHOX deletions and two previously unreported SHOX missense mutations. CONCLUSION: Molecular studies confirmed the clinical diagnosis of LWD in seven out of 12 patients, which provided support for therapeutic decisions and improved genetic counseling in their families.