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...

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...

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...

New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature, only a few have mentioned its occurrence in identical twins. This paper presents a rare incident of full-term twin babies born with the sequence...

Mutations in the gene SOX9 result in the syndrome of campomelic dysplasia (CD) which includes sex-reversal in 75% of 46,XY affected individuals. These mutations only affect a single allele of SOX9 suggesting a dominant mode of inheritance for this syndrome. Consequently, CD and autosomal sex reversal may result from haploinsufficiency of SOX9. The SOX9 gene maps to the long arm of human chromos...

Treacher Collins syndrome is characterized by the congenital hypoplasia of the zygomatic and mandible bones. It is a syndrome with a concise clinical presentation and mostly surgical treatment. Pierre Robin disorder, on the other hand, is a sequence and not a syndrome, i.e., in Pierre Robin sequence, micrognathia leads to glossoptosis. Glossoptosis, on the other hand, is responsible for the air...

Treacher Collins syndrome is characterized by the congenital hypoplasia of the zygomatic and mandible bones. It is a syndrome with a concise clinical presentation and mostly surgical treatment. Pierre Robin disorder, on the other hand, is a sequence and not a syndrome, i.e., in Pierre Robin sequence, micrognathia leads to glossoptosis. Glossoptosis, on the other hand, is responsible for the air...

The skeletal malformation syndrome campomelic dysplasia (CMD1) is caused by mutations within the SOX9 gene or chromosomal rearrangement breakpoints outside SOX9. Approximately three quarters of cases of CMD1 in XY subjects show complete or partial sex reversal. As some mutations cause CMD1 alone and others cause CMD1 and sex reversal, it is conceivable that some mutations might cause sex revers...