Karin Binner Becktor

Craniofacial Morphology, Dentition, and Skeletal Maturity in Four Siblings With Seckel Syndrome

OBJECTIVE To describe the craniofacial morphology, dentition, and hand maturity in four siblings with Seckel syndrome. PATIENTS Two boys and two girls, with Seckel syndrome. The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin, prominent nose, mental retardation, and extremely delayed skeletal maturation. The growth hormone axis and pituitary thyroid function was normal. METHODS Skeletal and dental development were investigated from radiographic material, and a cephalometric analysis was performed from profile radiographs. RESULTS The craniums were remarkably small with an extremely short anterior cranial base (-4.3 to -5.5 standard units) and maxillary length (-3.8 to -4.7 SU). Differences in the morphology of the sella turcica were observed in girls and boys. Tooth maturity progressed normally. Tooth agenesis and tooth malformations were observed. Taurodontic root morphology was observed only in the girls. The approximate skeletal maturity showed retardation from 4 years 3 months to 4 years 11 months. Malformations of the hand-wrist skeleton occurred in the epiphyseal ossification centers of the middle phalangeal bone in the second, third, and fourth finger and in the distal phalangeal bone in the fifth finger. The epiphyseal ossification centers were lacking in the middle and distal phalangeal bones of the fifth finger. CONCLUSION The underlying gene defect in the affected children seemingly affects bone development and growth but not dental maturation and eruption.

Midline skeletodental morphology in holoprosencephaly

OBJECTIVE The purpose of the present study was to analyze histologically the midline structures in a human fetus with holoprosencephaly and a single median maxillary central incisor. METHODS A human male fetus, CRL 137 mm, postconceptional age 18 weeks, with a diagnosis of holoprosencephaly, the cebocephalic type (one nostril), and alobar brain development, was investigated. After radiography, the cranial midline structures were examined histologically. RESULTS The histological examination revealed partial absence of the intermaxillary suture (in the region anterior to the central incisor), absence of the internasal suture, and partial absence of the metopic suture (caudal part). A single midline nasal bone was observed instead of two bilateral nasal bones, and a midline maxillary central incisor was found instead of two bilateral incisors. A short nasal septum, absence of crista galli, and partial absence of cartilaginous tissue anterior to the sella turcica in the region of the presphenoid bone were recorded. CONCLUSIONS The study shows that in the affected fetus, there were malformations of midline structures anterior to the sella turcica comprising suture development and cartilage development.

Craniofacial and Dental Manifestations of Proteus Syndrome: A Case Report

The Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations, sometimes involving the face. Common manifestations include partial gigantism, congenital lipomas, and plantar hyperplasia. In this report we describe the craniofacial clinicopathological development in a girl with Proteus syndrome from age 6 to 20 years. The patient had pronounced hemifacial hypertrophy, exostoses in the left parietal region, and enlargement of the inferior alveolar nerve and mandibular canal in the affected region. The dental development of the affected left mandible and maxilla was characterized by extremely premature development and eruption of the primary and permanent teeth and by pronounced idiopathic root resorptions. The multidisciplinary management of the patient and the treatment outcome is reported. A review of the Proteus patients in the literature who exhibited manifestation in the craniofacial region is presented.

Eruption of the central incisor, the intermaxillary suture, and maxillary growth in patients with a single median maxillary central incisor

The occurrence of a single median maxillary central incisor (SMMCI) is a very rare condition and might be a sign of a more severe midline defect, which could be a mild degree of holoprosencephaly. Absence of the internasal and partial absence of the intermaxillary suture has been observed in a fetus with holoprosencephaly. The purpose of this study was to evaluate the intermaxillary suture, the eruption pattern of the single central incisor in the SMMCI condition, and the growth of the maxilla in a group of patients with SMMCI. A similar study was not found in the scientific literature. The material included orthopantomographs, dental radiographs, and lateral cephalometric radiographs from 11 patients with an SMMCI. The orthopantomographs and dental radiographs showed that the intermaxillary suture was abnormal anterior to the incisive foramen; however, the SMMCI erupted within the expected time interval. Superimposition on stable structures on lateral cephalometric radiographs from two untreated patients, in which growth analysis was possible, showed that the horizontal and vertical growth of the maxilla was normal. Due to the sutural midline defect it is suggested that a transversal growth analysis is included in all treatment planning of SMMCI patients.

Craniofacial height in relation to cross-sectional maxillary and mandibular morphology

BackgroundIn order to gain a better understanding of how growth of the alveolar bone is linked to the vertical development of the face, the purpose of this study was to investigate if there is an association between the cross-sectional morphology of the maxillary and mandibular bodies with the craniofacial height, using images from cone beam computed tomography (CBCT).MethodsFrom 450 pre-treatment CBCT scans, 180 were selected to be included in the study. Lateral head images were generated from the CBCT scans and were used to categorise subjects into three groups based on their vertical craniofacial height. Cross-sectional images from CBCT volumes were reformatted of the maxillary and mandibular bodies at five locations in the maxilla and five in the mandible. Each image was measured at one height and two width measurements. Statistical analysis performed was the one-way analysis of variance with a Tukey post hoc test. A significance level of 5% was used in all comparisons.ResultsPatients with large vertical craniofacial height had a significantly higher cross-sectional area both in the maxilla and in the mandible. In the same group, the cross-sectional area was significantly thinner in the mandible compared with the other two groups, especially in the anterior region.ConclusionsThis study further highlights the close relationship between craniofacial height and alveolar bone dimensions and contributes with important knowledge for planning and follow-up of comprehensive dental- and orthodontic treatments.