![]() ![]() Without a comprehensive understanding of the full phenotypic spectrum of syndromic and nonsyndromic PRS, accurate diagnoses and tailored management strategies are challenging and difficult to evaluate systematically. There is no consensus about a definition of PRS and optimal management of the airway and feeding difficulties. The optimal criteria for diagnosis and management of children with PRS remain contentious. SOX9 CNE sequence variants are rare in our cohort and are unlikely to play a significant role in the pathogenesis of PRS-Plus. Dysmorphology assessment by a clinical geneticist is recommended. PRS-Plus represents a broad phenotypic spectrum with uncertain pathogenesis. We found a single nucleotide substitution in a putative GATA1-binding site in one patient, but it was inherited from his phenotypically unaffected mother. We identified 10 children with a family history of PRS or cleft palate. The most common coexisting craniofacial malformation was choanal stenosis/atresia. ![]() The most common PRS-Plus malformations involved the musculoskeletal and ocular systems. We found 83 children with isolated PRS and 58 with PRS-Plus. A subset of children with PRS-Plus was selected for detailed phenotyping and DNA sequencing of the upstream SOX9 CNEs. Clinical and demographic data were extracted by file review and children categorized as ‘isolated PRS' or ‘PRS-Plus'. We identified 141 children with nonsyndromic PRS at the Royal Children's Hospital, Melbourne from 1985 to 2012 using 2 databases. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes. The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). ![]()
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