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Article
July 1968

PycnodysostosisClinical and Genetic Considerations

Author Affiliations

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

Am J Dis Child. 1968;116(1):70-77. doi:10.1001/archpedi.1968.02100020072010
Abstract

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

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