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April 1965

Picture of the Month

Author Affiliations


Am J Dis Child. 1965;109(4):347-348. doi:10.1001/archpedi.1965.02090020349015

Denouement and Discussion 

CLEIDOCRANIAL DYSOSTOSIS  Marie-Sainton Syndrome, Mutational Dysostosis

MAJOR MANIFESTATIONS  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.

GENETICS  An autosomal dominant with high penetrance and variable expressivity.

SEXUAL INCIDENCE  Equal distribution.

PHYSICAL FINDINGS  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