Hereditary cup-shaped ears and 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...

سندرم پیرروبین ( THE PIERRE ROBIN SYNDROME )

A Case Report: Nager Acrofacial Dysostosis

Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...

Pierre robin sequence as birth asphyxia in a new born.

A new born baby boy presented with birth asphyxia and respiratory distress. He went into cardiac arrest twice but was resuscitated. On detailed evaluation, he had low set ears and micrognathia with glossoptosis consistent with features of Pierre Robin sequence. Episodes of apnoea disappeared, on nursing, the baby in prone position and later on tongue-lip retention suture were applied. Prompt di...

A case of Barber-Say syndrome in a male Japanese newborn

KEY CLINICAL MESSAGE We reported a case of Barber-Say syndrome (BSS) in a Japanese newborn. Distinctive features of BSS were found; macrostomia, gingival dysplasia, cup-shaped low-set ears, wrinkling redundant skin, and hypertrichosis. Fundus showed subretinal drusenoid deposits, a novel finding of BSS. Genetic analysis is underway using next-generation genome sequencing and microarray analysis.