Physiology & Biochemistry · patient case question
What is characteristic of fetal alcohol syndrome?
Patient case: Syndromes recognised at the chair
demo: Paediatric and young adult clinic
chief: Several patients whose facial and dental features point to a recognisable syndrome.
history: One child has bilateral painless expansion of the mandibular angles with an upward gaze, and a father with the same childhood history. Another has downslanting palpebral fissures, malar hypoplasia and malformed external ears. A third has notched, screwdriver-shaped permanent incisors and multicusped first molars. A fourth has a smooth philtrum, a thin upper lip and short palpebral fissures.
meds: None.
findings: Not applicable.
Show answer and explanation
Correct answer: B. Midface anomaly with a smooth philtrum and thin upper lip
- A. Microcephaly, not macrocephaly, is characteristic.
- B. Correct. The facial phenotype is midface hypoplasia with a smooth philtrum, a thin vermilion border of the upper lip and short palpebral fissures. Growth restriction, microcephaly and neurodevelopmental impairment complete the picture, and cleft palate occurs more frequently.
- C. Midface hypoplasia can create a relative Class III appearance, but true mandibular prognathism is not a defining feature.
- D. Supernumerary teeth belong to cleidocranial dysplasia and Gardner syndrome.
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