We report four sibs, two pairs of twins, with cerebrocostomandibular syndrome (CCMS). The family history was negative. All four babies had the characteristic features of CCMS, including Pierre-Robin anomalad and rib dysplasia. Cerebral involvement was evident in two of the patients who had suffered perinatal asphyxia. The presence of the syndrome in all four sibs together with the negative fami...

The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 estimated rate, characterized by the presence of the combination of mandibular hypoplasia (micrognathia or small jaw), glossoptosis (retrusion of the tongue into the pharyngeal airway) and, often, a posterior cleft of the secondary palate. It may be an isolated occurrence or part of a more complex s...

Airway management for patients with craniofacial disorders poses many challenges. The anaesthesiologist must be familiar with the normal bony and soft-tissue anatomy in the airway and how anatomy is altered by various congenital disorders. Specific areas to assess include the oral cavity, anterior mandibular space, maxilla, temporomandibular joint and vertebral column. Congenital conditions tha...

The Pierre Robin sequence was first described by Pierre Robin in 1923 as a triad of micrognathia, U-shaped cleft palate, and glossoptosis. Although the problems associated with Pierre Robin sequence may be numerous, the most acute problem in affected newborns is upper airway obstruction. The causes of upper airway obstruction are heterogeneous, and treatment is controversial and may include a l...

OBJECTIVE Evaluate parental perceptions associated with tracheostomy morbidity and quality of life in the management of Pierre Robin Sequence (PRS). STUDY DESIGN Retrospective review/survey. METHODS 42 Pierre Robin patients were identified, records were reviewed and airway assessments evaluated relative to airway compromise. Twenty patients had undergone tracheostomy. Perceptions of quality...

Pierre Robin Sequence is a well-recognized case of rarity which presents with a triad of glossoptosis, cleft palate. We report a rare case of Pierre robin Sequence in an Asian child, with the absence of left femur and right sided inguinal hernia.

UNLABELLED Objective(s : Cleft lip/palate are common congenital anomalies, affecting approximately 2/1000 live births. Pierre Robin Sequence is a subgroup of the cleft palate population. Chromosomal abnormalities near the SOX9 gene disrupt the regulation of this gene and prevent the SOX9 protein from properly controlling the development of facial structures, which leads to isolated PRS. The pre...