Paeds Cases · genetics-dysmorphology-and-metabolism
Unusual face and developmental delay — dysmorphology examination OSCE
OSCE on a structured dysmorphology examination plan, anomaly classification, tiered testing and family communication.
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Target exams
MRCPCH ClinicalRACP DCE
Prompt
6-month-old infant referred for an unusual face and developmental delay; caregiver present and concerned.
Objectives
- Elicit the developmental and family concern. [7]
- Outline a structured, terminology-driven dysmorphology examination. [1]
- Classify findings and plan tiered genetic testing. [3] [9]
- Communicate uncertainty and the plan honestly. [5]
References5ShowHide
- [1]Allanson JE, Biesecker LG, Carey JC, Hennekam RC Elements of morphology: introduction. American Journal of Medical Genetics Part A, 2009.PMID 19127575
- [3]Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK Elements of morphology: general terms for congenital anomalies. American Journal of Medical Genetics Part A, 2013.PMID 24124000
- [5]Carey JC, Allanson JE, Hennekam RC, Biesecker LG Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions. Human Mutation, 2012.PMID 22331827
- [7]Moeschler JB, Shevell M Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics, 2006.PMID 16740881
- [9]Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP 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