Two children with pycnodysostosis, a 10 year-old girl and a 9 year-old boy, received dental care and the following findings were noticed.
1) General findings
The patients were products of a first cousin marriage and the elder patient had several histories of bone fracture. Thier height was markedly reduced. The head was dolicocephalic in form and the face was small with swollen eyelids, Pallotlike nose and reduced chin. The fingers were short with a drumstick appearance and the nails were hypoplastic.
Labolatory findings of blood and urine were within normal limits.
2) X-ray findings
X-ray films showed increased radiopacity of all bones, and cranail anomalies such as open frontaneles and cranial sutures, total aplasia of frontal sinus, obuse mandibular angle and deep mandibular notches. The bone age of the hands was normal, but the terminal phalanges were hypoplastic.
Cephalometric analysis revealed severe underdevelopment of the cranio-facial bones, especially with respect to the anterior maxillary higtht and the whole mandibular measurement.
3) Oral findings
The median raphe of the palate was grooved and the vestibular oris was shaow. The dental arches were very small and the teeth were crowded. Other lalnomalies included persistence of deciduous teeth, and congenital missing teeth, pegshaped teeth and delayed or ectopic eruption of permanent teeth.