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Sydney S. Gellis, MD; Murray Feingold, MD; Walter E. Nance, MD; Stanley Elmore, MD; Eric Engel, MD
Am J Dis Child. 1967;113(2):275-276. doi:10.1001/archpedi.1967.02090170139018.
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Denouement and Discussion 


Major Manifestations  Pycnodysostosis is an inherited disorder of bone characterized by short stature, persistent cranial sutures, dysplasia of skull bones, flattened mandibular angle, partial aplasia of the terminal phalanges, and increased bone density observed roentgenographically. These abnormalities of the bone are often associated with a predisposition to fracture which usually occurs in infancy and childhood, involving the lower extremities.

Genetics  Autosomal recessive inheritance is the generally accepted mode of transmission. How ever, in rare but typical cases, the presence of bone abnormalities in the parents suggest that the gene may be partially expressed in the heterozygous state or that more than one genetic locus may determine similar disorders. Pycnodysostosis has been reported in patients varying in age from 9 months to 43 years and in various ethnic groups.

Physical Findings  Common to most cases of pycnodysostosis are: short stature


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