2Iq23.1 microdeletion syndrome is a recently described rare disease that includes intellectual disability, motor delay, autistic-like behaviors, and craniofacial abnormalities. Dosage insufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene was suggested as the genetic cause, since all the described patients carry a partial or total heterozygous deletion of MBD5. We reported the gen...

BACKGROUND Airway management for patients with craniofacial abnormalities poses many challenges. It potentially has a high rate of morbidity and even mortality. METHODS We reviewed our experience in administering anesthesia to patients with a diagnosis of mucopolysaccharidosis or Pierre Robin sequence in the past 10 years (July 1998 to October 2008). The anesthetic procedures, methods of airw...

The pediatric population, as well as the adult population, is subject to similar injuries and traumatic events involving the craniofacial skeleton. Although less frequent than adult injuries, the craniofacial injuries sustained by children are considered separately in textbooks and the literature because of the special unique problems associated with their treatment and the effects they might h...

A child is described with a previously unreported probable trisomy for a segment of the long arm of chromosome 17 responsible for some distinct clinical features. These include craniofacial and skin abnormalities, failure to thrive, partial malrotation of the gut, malabsorption, gastro-oesophageal reflux, neurodevelopmental delay, autonomic disturbance, and cardiac and CNS abnormalities. The co...

Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upst...