Semi-Automatic Volumetric Segmentation of the Upper Airways in Patients with Pierre Robin Sequence

Mandibular Distraction Osteogenesis: Upper Airway Management in Pierre Robin Sequence

Role of SOX9 in the Etiology of Pierre-Robin Syndrome

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 present study wa...

BMPR1B mutation causes Pierre Robin sequence

BACKGROUND We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY This study aims to determine the genetic cause of PRS. RESULTS The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and G...

Cervico-thoracic kyphosis in a girl with Pierre Robin sequence

Congenital cervico-thoracic kyphosis has been encountered in a girl with Pierre Robin sequence. The constellation of the spine malformation complex such as incomplete development of the vertebral bodies associated with defective ossification of the cervico-thoracic pedicles causing effectively the development of complete spinal cord injury at the kyphotic level of C7/T1 were present. Congenital...

Early communication intervention with young children with Pierre Robin sequence.

Young children with Pierre Robin sequence are at considerable risk to develop delayed or disordered communication development. This study investigated the effectiveness of early communication intervention with four young children with Pierre Robin sequence, aged 5 to 28 months. The Proportional Change Index (Wolery, 1983) was used to determine the amount of child progress that took place during...