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Clinical and Genetic Considerations

Heddie D. Sedano, DDS, MS; Robert J. Gorlin, DDS, MS; V. Elving Anderson, PhD

Am J Dis Child. 1968;116(1):70-77.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

MAROTEAUX and Lamy,¹ in 1962, defined pycnodysostosis as a syndrome consisting of the following characteristics: (1) dwarfism; (2) osteopetrosis; (3) partial agenesis of the terminal digits of the hands and feet; (4) cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; (5) frontal and occipital bossing; and (6) hypoplasia of the angle of the mandible.

The literature has revealed that several cases of this syndrome have been published as other disorders, chiefly Albers-Schönberg disease and cleidocranial dysostosis. Still others will be considered under differential diagnosis. The first reported case appears to be that of Montanari² in 1923.

Collado-Otero,³ in 1956, accurately described a case as "another form of osseous dystrophy," and credit should be given to this author as well as to Maroteaux and Lamy for their recognition of this disorder as a distinct entity. Our literature survey yielded a total of . . . [Full Text PDF of this Article]

Author Affiliations

From the Division of Oral Pathology (Drs. Sedano and Gorlin) and Dight Institute of Genetics (Dr. Anderson), University of Minnesota, Minneapolis.

Footnotes

Reprint requests to Division of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis 55455 (Dr. Gorlin).

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