Denouement and Discussion
Marie-Sainton Syndrome, Mutational Dysostosis
Frontal, parietal, and occipital bossing forming a large globular-shaped skull. Aplasia of the entire clavicle or its midportion allowing the shoulders to approximate anteriorly.
An autosomal dominant with high penetrance and variable expressivity.
HeadFrontal, parietal, and occipital bossing forming a large, globular-shaped skull. Fontanel is widely open at birth and remains so until adulthood. Sutures are also widely open. Wormian bones are present.ClaviclesThere is symmetrical aplasia or hypoplasia of the cartilaginous part of the bone. The midportion of the clavicle is most commonly absent. The sternal and acromial ends may be present. The shoulders can be approximated anteriorly.Oral CavityThe deciduous teeth are normal, but the permanent teeth may be absent, delayed in eruption, or have defective enamel and deficient roots. The palate is high arched with an