Craniometaphyseal dysplasia congenita—Pyle's disease in a young child

Craniometaphyseal dysplasia congenita is a rare bone dysplasia characterised by sclerosis of the diaphyses of the long and short tubular bones, the base of the skull and facial bones with radiolucency of the metaphyses without splaying. The skeleton is affected bilaterally and symmetrically (Rubin, P., 1964). It is only within the past few years that the congenita type has been recognised as a distinct radiological entity and as far as can be ascertained this is the youngest patient yet recorded in the English literature. J.H., a male, the third child of the present marriage, was two weeks post-mature when born on 6.8.67 following a normal spontaneous delivery. The birth weight was 10 lb. 2 oz. and he appeared normal. The mother had two episodes of acute bronchitis during the pregnancy, at the third and the seventh months, treated successfully on both occasions by a tetracycline. He was first examined when ten weeks old because of snuffling and feeding difficulties which had developed shortly after birth. Decongestant nasal drops had improved the snuffling, but he still slept with his mouth open. On examination he had a mucoid nasal discharge and difficulty in breathing through his nose when his mouth was held closed. The nostrils were congested but a fine polythene catheter was passed down both nasal airways. The palate was intact and he swallowed normally.