An Autopsy Case of Pierre Robin Syndrome with Pulmonary Atresia

سندرم پیرروبین ( THE PIERRE ROBIN SYNDROME )

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...

Non-surgical management of Pierre Robin syndrome.

A review of relevant published reports seems to indicate that in the case of babies suffering from intermittent airway obstruction due to a combination of micrognathia, glossoptosis, and often cleft of hard and soft palate (the Pierre Robin syndrome), successful treatment usually includes surgery of one kind or another. However, some non-surgical methods have been advocated. Pierre Robin (1934)...

The Robin anomalad (Pierre Robin syndrome)--a follow up study.

During a 10-year period 55 patients with the Robin anomalad were admitted to the Liverpool Regional Cleft Palate Units. Fourteen (25%) children died. All deaths were within 3 months of birth. Congenital abnormalities other than mandibular retrognathia and cleft palate were present in 14 (26%) children. Peripheral limb defects were particularly common. Thirty children were recalled and reviewed ...

Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome

Ischiospinal Dysostosis (ISD) is a complex and very rare medical entity. It is associated with kyphoscoliosis, dysplasia or aplasia of the ischial rami, segmental anomalies of the bony vertebrae, and peculiar facial morphologies. In this case report, we present a child with Ischiospinal Dysostosis and Pierre-Robin Syndrome. This case report is unique as we followed the patient for 13 years in w...