![]() ![]() A German prospective study reported an incidence of 12.4 per 100,000 live births. Candidate genes and loci are under investigation. An inherited translocation defect has been identified in one Pierre Robin family. It has been linked with deletions on chromosome 2 that are known to be associated with palatal abnormalities and some cases may have a Mendelian genetic basis that is, as yet, unclear. Unique PRS (unique anomalies plus PRS) - 35%.Syndromic PRS (a syndrome plus PRS) - 25%.The mandibular deformity either results from an inherent growth problem which may be genetic, syndromic (part of a syndrome) or is deformational where intrauterine growth of the mandible is restricted. It is called a sequence because the mandibular abnormality sets off a sequence of events in the uterus, leading to the other deformities.The aetiology of the sequence is not fully understood and pathogenesis is thought to be multifactorial. In reality, the tongue may be normal size or small, so upper airway obstruction may be substituted for this feature). Glossoptosis (implying a relatively large tongue. ![]() ![]() Cleft palate (classically U-shaped but V-shaped may occur, usually without cleft lip).Micrognathia or retrognathia (small or retracted mandible).Pierre Robin, a French dental surgeon (1867-1950), is identified with the sequence/syndrome due to his role in the early part of the twentieth century, describing the typical triad of features and his many articles on its management. This condition was originally considered to be a single clinical entity but is now thought to represent a particular outcome of an abnormal developmental process, associated with a range of clinical entities and is more commonly referred to as Pierre Robin sequence (PRS). Related conditions - these may display features of the malformation: Stickler's syndrome, velocardiofacial syndrome, Catel-Manzke syndrome, Treacher Collins' syndrome, Nager syndrome, spondyloepithelial dysplasia congenita, campomelic dysplasia. Synonyms: Pierre Robin syndrome (PRS), Pierre Robin anomaly/anomalad, Pierre Robin malformation (PRM) complex, Robin sequence, Robin complex ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |