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Stabilità degli incisivi nei pazienti ortodontico-chirurgici: controllo nei casi open-bite, II e III Classe trattati con fissazione rigida interna
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Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry
No full textKoolen-de Vries syndrome (KdVS, MIM#610443) is a rare malformation condition mainly characterized by cognitive impairment in association with craniofacial and visceral anomalies. The core phenotype is caused by mutations in the chromatin remodeler KANSL1 (MSL1V1, KIAA1267, KAT8 Regulatory NSL Complex Subunit 1, MIM#612452), which maps to 17q21.31 critical genomic region (Koolen et al., Nature Genetics 2012;44:639-641). Considering its molecular basis, KdVS is included in the group of Developmental Disorders of Chromatin Remodeling (DDCRs), also termed chromatinopathies. We describe the first KdVS patient of Southern India ethnicity, harboring the typical de novo 17q21.31 microdeletion, including KANSL1. Observed facial features and congenital anomalies are in line with the already reported KdVS phenotype, suggesting that phenotypic features are consistent across different ethnicities
Upper airway volume after Le Fort III advancement in subjects with craniofacial malformation.
No full textTHE USE OF POINT CORTICOTOMY. CASE REPORT OF A PATIENT WITH MONOLATERAL HYPERPLASIA OF THE MANDIBULAR CONDYLE AND MAXILLO-MANDIBULAR MALFORMATION
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