Paeds Vivas · genetics-dysmorphology-and-metabolism
Down syndrome — branching viva
Branching viva on Down syndrome: recognising the three genetic mechanisms and the counselling implications, mapping the comorbidities by system, applying the age-stratified health-supervision schedule, and managing the acute newborn presentations.
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Study tools
Target exams
RACP DCEMRCPCH ClinicalRCPSC Pediatrics
Prompt
Postnatal ward: a hypotonic newborn with a flat facial profile, upslanting palpebral fissures and a single palmar crease, in whom the chromosomal microarray shows additional chromosome 21 material. The examiner asks: how do you confirm the diagnosis, what are the three mechanisms and why does each matter for counselling, what is the immediate and long-term surveillance plan — then branches to the same child presenting with bilious vomiting on day two, and finally to the child at four years with behavioural change and snoring.
Opening question
A newborn on the postnatal ward is hypotonic with the characteristic facial gestalt, and the microarray shows additional chromosome 21 material. How do you confirm the diagnosis, and why does the genetic mechanism matter beyond the label? [1] [2]
References4ShowHide
- [1]Bull MJ. Down Syndrome N Engl J Med, 2020.PMID 32521135
- [2]Bull MJ Health supervision for children with Down syndrome Pediatrics, 2011.PMID 21788214
- [3]Hitzler JK, Zipursky A. Origins of leukaemia in children with Down syndrome Nat Rev Cancer, 2005.PMID 15630411
- [4]Maris M, et al. Sleep problems and obstructive sleep apnea in children with down syndrome, an overwiew Int J Pediatr Otorhinolaryngol, 2016.PMID 26857307