Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family

Table 1

Clinical findings

Dentoalveolar characteristics

(i) Open fontanelle or delayed closure of fontanelle; (ii) Open sutures; (iii) Wormian bones; (iv) Skull: usually large broad and brachycephalic type; (v) Hypoplasia of maxillae, lacrimal, nasal, and zygomatic bones; discontinuous zygomatic arch; parallel-sided ascending ramus of the mandible; upwards and/or posteriorly pointing coronoid process with less thick masseter muscles than in the age- and sex-matched control subjects; (vi) Underdeveloped and narrow paranasal sinuses; (vii) Prominent frontal, parietal, and occipital bones; (viii) Ocular hypertelorism and a mild exophthalmus; (ix) Small and bell-shaped thoracic cage with short, oblique ribs; (x) Hypoplastic scapulae with deficiencies in the supraspinatus fossae and acromial facets; (xi) Defects of the vertebral column: scoliosis and kyphosis; (xii) Pelvis: widened pubis symphysis due to a delay in ossification during adulthood. Hypoplasia and anterior rotation of the iliac wings and wide sacroiliac joints; large femoral epiphyses, broad femoral necks, and frequently coxa vara. Caesarean section of the dysplastic pelvis often necessitates in the pregnant female; (xiii) Presence of both proximal and distal epiphyses in the second metacarpals and metatarsals leading to excessive growth and length; (xiv) Unusually short bones of the hands and feet, especially the distal phalanges and the middle phalanges of the second and fifth fingers; (xv) Cone-shaped epiphyses and premature closure of epiphyseal growth plates lead to shortening of other bones. Tapered appearance to the digit, hypoplastic or dysplastic nails, sometimes absent; (xvi) Anomalous muscles secondary to bony involvement

(i) Over retained deciduous teeth without any resorption in roots; (ii) Delayed/retarded eruption of permanent teeth because of lessened eruptive potential, although it is not entirely absent; (iii) Multiple impacted supernumerary teeth that displace the developing permanent teeth and obstruct their eruption, as a possible result of incomplete or delayed resorption of the dental lamina, which is reactivated at the time of crown completion of the normal permanent dentition; (iv) Crypt formation around impacted and ectopic teeth; (v) High narrow arched palate and infrequently cleft palate; (vi) Partial anodontia; (vii) Reduced height of the lower third of the face and a skeletal class III tendency due to the underdevelopment of the maxilla and to an upward and forward mandibular rotation. Markedly reduced vertical development of the alveolar bone, with a shallow buccal and lingual sulcus; (viii) Possible nonunion of the symphysis of the mandible; (ix) Late but spontaneous eruption of first and usually second permanent molars in both the jaws; (x) Delay in the root development of permanent teeth and short and thinner roots; (xi) Absence or lack of cellular cementum on the roots of the permanent teeth with no increased thickening of primary acellular cementum, probably due to mechanical resistance to eruption by the dense alveolar bone overlying the unerupted teeth