Cleidocranial dysplasia accompanied with pseudohypoparathyroidism I: Case report

Abstract

As cleidocranial dysplasia is one of the systemic bone disorders characterised by anomalies of clavicle, cranium, maxilla and mandible, complications are rarely found in other than the bone system.
We have examined a boy, 8 years and 3 months old when first seen, of this disease accompanied with pseudohypoparathyroidism I, who is perhaps the second reported case in Japan. He was diagnosed to be pseudohypoparathyroidism I based on the attacks of tetany, calcified bodies in the brain found by CT, low Ca and high P levels in the blood, and on the Ellsworth-Howard examination. He was diagnosed to have cleidocranial dysplasia because of the specific motion of approaching shoulders, late existence of the anterior fontanell, and teeth anomalies as written below.
At the examination of 9 years and 4 months, D+D/D+D and cuspids of E/E/E/E erupted, but no permanent tooth had erupted, all remaining in the jaws ascertained by roentgenography. Several serious carious deciduous teeth were extracted at this time. At the examination of 12 years and 3 months, however, no permanent tooth was seen except for the incisor edges of the lower central incisors.
Cephalometric x-ray analysis at 9 years and 4 months revealed maxillary maldevelopment to anterior and down directions, progenia, and maldevelopment of the mandibular angle. These were also found at the 12 years 3 months examination, but the amount of the maxillary and mandibular developments during these periods were nearly the same as that of normal boys.
The etiology of cleidocrnial dysplasia was discussed based on the present case and on some literatures reporting the complications that accompanied this disease.