Paeds Cases · fetal-neonatal-and-perinatal
Dysmorphic newborn — assessment and counselling OSCE
OSCE on assessing a dysmorphic term newborn, choosing the diagnostic ladder, and counselling the parents about a likely syndrome.
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Target exams
MRCPCH ClinicalRACP DCE
Prompt
Ten-minute station: examine a hypotonic, dysmorphic term newborn, form a syndromic impression, outline the genetic work-up, and discuss the plan with the parent at the bedside.
Objectives
- Perform a complete head-to-toe examination of a dysmorphic newborn and document major and minor anomalies. [1]
- Cluster the findings into a syndromic impression and justify the diagnostic ladder. [2] [3]
- Communicate the assessment and next steps to the parent in plain, honest language. [1]
References6ShowHide
- [1]Webber DM Developments in our understanding of the genetic basis of birth defects. Birth Defects Research Part A: Clinical and Molecular Teratology, 2015.PMID 26033863
- [2]Miller DT Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 2010.PMID 20466091
- [3]Antonarakis SE Down syndrome. Nature Reviews Disease Primers, 2020.PMID 32029743
- [8]Scheuerle AE Defect evaluation by infant photographs in a multicenter pharmaceutical clinical trial. Birth Defects Research, 2020.PMID 31746564
- [10]Lalani SR Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. American Journal of Human Genetics, 2006.PMID 16400610
- [11]Petrikin JE The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill children. NPJ Genomic Medicine, 2018.PMID 29449963