Unusual face and developmental delay — dysmorphology examination OSCE

Objectives

1. Elicit the developmental and family concern. [7]
2. Outline a structured, terminology-driven dysmorphology examination. [1]
3. Classify findings and plan tiered genetic testing. [3] [9]
4. Communicate uncertainty and the plan honestly. [5]

Candidate brief

Twelve-minute station. A caregiver and their 6-month-old infant are present; the referral cites an unusual face and developmental delay. [1]

Expected actions

• Open with a concern-focused developmental and family history. [7]
• Outline observation then systematic head-to-toe examination in standard terms. [1]
• Name the measurements (occipitofrontal circumference and facial distances) and the plan to examine the parents. [1]
• Classify anomalies by mechanism and significance; state the three-or-more-minor-anomalies rule. [3] [5]
• Propose chromosomal microarray as first-tier and exome or genome as the next step, plus an organ-targeted work-up. [9]

Parent actor prompts

• "Everyone says she looks like her father, but she is not doing what her cousin did at this age." [7]
• "Is something wrong with her face? Will she be okay?" [1]

Model communication lines

"I hear your concern, and I take it seriously. I will watch how she plays, examine her carefully from head to toe using clear measurements, and I would like to look at you both as well, because family features matter. My plan is to arrange a first genetic test called a chromosomal microarray, and if needed a more detailed test called exome sequencing. I will explain every result in plain language. Some answers take time, so I will book a definite review and tell you exactly what to watch for in the meantime." [1] [7]

Marking

Pass: structured terminology-driven examination plan with measurements and parental examination; correct anomaly classification and the three-or-more-minor-anomalies rule; microarray as first-tier with exome as next step; honest, plain-language counselling with a booked review. [1] [3] [9] Fail: vague non-standard description; reassurance from a single feature without searching for a pattern; karyotype offered as the default first test; or an open-ended wait with no plan. [5] [7]