Craniofacial Dysostosis With Diaphyseal Hyperplasia

Clinical Features

Stanescu et al. (1963) described 9 members of a kindred with an apparently 'new' syndrome. The features included a peculiar form of craniofacial dysostosis with small skull, thin cranial bone, depressions over the frontoparietal and occipitoparietal sutures, poorly developed mandible, and exophthalmos. The limbs were short and by x-ray the cortices of the long bones were massively thickened. Maximilian et al. (1981) reexamined this family. In the period between reports, 3 additional affected persons had been born. Maximilian et al. (1981) noted that thickening of bone cortex occurs during or after puberty and increases with age.

Dipierri and Guzman (1984) reported affected mother and infant daughter. The most striking features were short stature (144 cm in the mother), brachycephaly, brachydactyly, and dense cortices of long bones. The age of the unaffected father of 'the mother' in Dipierri and Guzman's report was 50 at the time of her birth.

The patient reported by Hall (1974) had severe involvement of the spine and thorax with kyphoscoliosis and pectus excavatum; a different disorder may have been present.

Horovitz et al. (1995) described an affected male and his affected mother. Both were short and had cortical sclerosis of the long bones, deficient facial sinus development, cranial bone malformations, and normal intelligence. The presence of wormian bones and calcification of the falx cerebri had not previously been observed. Both the 10-year-old son and the 37-year-old mother showed these 2 features. In the kindred reported by Horovitz et al. (1995) there were possibly affected individuals in 3 generations and several separate sibships with instances of male-to-male transmission. The diagnosis was based, however, not on personal examination but on information from the family and suggestive photographs.

Inheritance

The transmission pattern of craniofacial dysostosis with diaphyseal hyperplasia in the family reported by Stanescu et al. (1963) was consistent with autosomal dominant inheritance.