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Article
February 1967

Picture of the Month

Author Affiliations

Boston; Nashville
From the Department of Medicine and Orthopedic Surgery, Vanderbilt University School of Medicine, Nashville (Dr. Engel).

Am J Dis Child. 1967;113(2):275-276. doi:10.1001/archpedi.1967.02090170139018
Abstract

Denouement and Discussion 

PYCNODYSOSTOSIS 

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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