Autosomal recessive craniometaphyseal dysplasia

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Abstract
The autosomal recessive form of craniometaphyseal dysplasia was ascertained in two sibships with two affected individuals each. All four parents were normal and in one case they were consanguineous; both families were living in Caracas but had their origins in Tenerife Island (Canary Islands), although no genealogic link between them could be established. The age of the patients ranged from 6 to 14 years and the main clinical alterations were a thick bony wedge over the bridge of the nose, dystopia canthorum, ocular hypertelorism, enlarged malar prominences and mandible, wide alveolar ridges, dental abnormalities, and genu valgum; narrowing of the nasal passages led to mouth breathing. A slight, mixed hypoacusia was present in two patients; no other signs of cranial nerve involvement were detected. The cardinal radiographic features were hyperostosis and sclerosis of the calvarium, the base of the skull, and the facial bones and mandible; increased bone deposition on the walls of the paranasal sinuses; under‐pneumatization of mastoid cells; cortical hyperostosis of the diaphyses of the short and long tubular bones, and gradual, club‐shaped widening of the metaphyses, which had thin cortex and undermineralized medullary bone. The clinical and radiologic alterations had an increasing gradient of severity with age. The phenotype of recessive craniometaphyseal dysplasia is not clearly differentiated from the dominant form but easily so from two other recessive conditions with which it was formerly confused: Pyle disease and craniodiaphyseal dysplasia.

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