Dysmorphic newborn — assessment and counselling OSCE

Objectives

1. Perform a complete head-to-toe examination of a dysmorphic newborn and document major and minor anomalies. [1]
2. Cluster the findings into a syndromic impression and justify the diagnostic ladder. [2] [3]
3. Communicate the assessment and next steps to the parent in plain, honest language. [1]

Candidate brief

Eight-to-ten-minute station. You are asked to examine a term newborn on the postnatal ward who has been noted to be hypotonic with an unusual face. The parent is present and anxious. Form a syndromic impression, outline the genetic work-up, and discuss the plan with the parent. The pregnancy was uncomplicated and there is no family history of note. [1] [3]

Expected actions

• Wash hands, warm hands, and introduce yourself to the parent; explain what you will do. [1]
• Observe the gestalt first (tone, posture, facial impression) before touching the baby. [3]
• Examine head to toe: fontanelles and sutures, eyes (spacing, red reflex), ears (position, rotation), entire palate (run a finger for a submucous cleft), neck, chest and heart (murmur, femoral pulses), abdomen, umbilical vessels, genitalia and anus, limbs (digits, talipes), spine and skin. [1]
• State the major and minor findings you have identified (for example, hypotonia, flat facial profile, upslanting palpebral fissures, single palmar crease, sandal-gap toes). [3]
• Form a syndromic impression and justify the first genetic test (karyotype for a likely aneuploidy; microarray first-line if the pattern is unexplained). [2] [3]
• Explain to the parent in plain language that the features suggest a pattern you want to confirm with a blood test, give a realistic timeframe, and name a single trusted clinician to contact. [1]
• Arrange targeted screening (echocardiogram, hearing) appropriate to the impression. [3]

Marking

Pass: systematic, warm examination; identification of major and minor anomalies forming a pattern; correct diagnostic ladder (karyotype for a clear aneuploidy, microarray first-line otherwise); plain-language, honest communication with a clear next step and follow-up; appropriate targeted screening. [2] [3]

Fail: fixating on one finding and missing the pattern; choosing the wrong genetic test; dismissive or jargon-laden communication; omitting targeted screening (for example, no echocardiogram for a suspected trisomy); failing to offer a follow-up point of contact. [1] [2]

Model synthesis

The dysmorphic newborn is assessed by recognising a pattern, not by naming a syndrome from memory. Stabilise the baby first, complete the head-to-toe examination, document and photograph every major and minor finding, and take a three-generation family history. Cluster the findings into a syndromic impression and climb the diagnostic ladder — karyotype for an obvious aneuploidy, chromosomal microarray first-line for the unexplained pattern, and rapid sequencing for the sick infant. Communicate honestly and in plain language, with a single trusted clinician and a clear follow-up plan, because parents remember how the diagnosis was given for the rest of their lives. [1] [2] [3]