Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal...

The "Down syndrome critical region" (DSCR) is a chromosome 21 segment purported to contain genes responsible for many features of Down syndrome (DS), including craniofacial dysmorphology. We used chromosome engineering to create mice that were trisomic or monosomic for only the mouse chromosome segment orthologous to the DSCR and assessed dysmorphologies of the craniofacial skeleton that show d...

Obstructive sleep apnea syndrome (OSAS) is a common and serious cause of metabolic, cardiovascular, and neurocognitive morbidity in children. Children with OSAS have increased upper airway resistance during sleep due to a combination of soft tissue hypertrophy, craniofacial dysmorphology, neuromuscular weakness, or obesity. Consequently, children with OSAS encounter a combination of oxidative s...