Dysmorphology examination and syndrome recognition — formative SAQs

SAQ 1 (10 marks)

A term newborn is referred for a detailed assessment after the midwife notes an unusual face and a heart murmur. ^[1]

1. Outline your structured dysmorphology examination and documentation. (4) ^{[1] [3]}
2. Define a major versus a minor anomaly, and explain the significance of finding three or more minor anomalies. (3) ^{[3] [5]}
3. State your first-tier genetic investigation and your next step if it is negative. (3) ^{[7] [9] [10]}

Model answer

Observe the undressed, settled child first, then examine systematically head to toe — skull and face, neck and chest, abdomen and genitalia, spine, limbs, skin and neurology — describing each finding in standard Elements of morphology terms and avoiding vague language. ^{[1] [3]} Measure occipitofrontal circumference and the facial distances against norms, take standardised photographs with consent, and examine the parents. ^[1] A major anomaly has a structural, medical or surgical consequence; a minor anomaly does not on its own; three or more minor anomalies meaningfully raises the probability of an underlying syndrome and demands a search. ^{[3] [5]} First-tier testing is chromosomal microarray; if it is negative and a monogenic syndrome is likely, escalate to exome or genome sequencing, while organising the organ-targeted work-up (for example echocardiography) the pattern demands. ^{[7] [9] [10]}