CT in the evaluation of the orbit and the bony interorbital distance.

The distance between the orbits and their individual dimensions are important in the diagnosis of craniofacial anomalies. Most observers rely on standard radiographs for measuring the bony interorbital distance. Tomography of the skull base and orbital computed tomography (CT) can also be used. This article describes the normal range of the bony interorbital distance and other useful orbital linear and angular measurements as determined from a series of CT scans of the orbits in 400 adults who had CT for other purposes. The normal interorbital distance measured at the posterior border of the frontal processes of the maxilla on nonrotated scans, in the plane of the optic nerve, ranges from 2.29 to 3.21 cm (average, 2.67 cm) in men and 2.29 to 3.20 cm (average, 2.56 cm) in women. The widest interorbital distance lies behind the posterior poles of the globes. This ranges from 3.16 to 4.10 cm (average, 3.37 cm) in men and 2.93 to 3.67 cm (average, 3.20 cm) in women.

Long-term effects of premaxillary setback on facial skeletal profile in complete bilateral cleft lip and palate.

The purpose of this study was to analyze the long-term effects of premaxillary setback in the surgical treatment of complete bilateral cleft lip and palate (C-BCLP). Roentgencephalograms at adolescence or early adulthood were available for 13 of our longitudinal C-BCLP patients who were treated with premaxillary setback and followed up with serial films since infancy. Six individuals had been subjected to early premaxillary setback to facilitate lip repair. Seven of the patients had had their premaxillae setback at a later age to correct a severe midfacial protrusion in the preschool years. Fourteen other C-BCLP patients, followed up and treated similarly except for the premaxillary setback, served as controls. The average long-term outcome of the setback surgery in both the early and late subgroups was retrusion of the midface and a slightly concave facial skeletal profile.

Long-term follow-up of a mandibular costochondral graft.

The long-term follow-up of a patient with unilateral mandibular condylar dysplasia and facial asymmetry, treated with a costochondral graft, is presented. The etiology of the deformity and the surgical treatment are discussed. A detailed review of the literature is included to introduce the reader to the biology and rationale for the use of costochondral grafts in growing patients.

Radiographic features of the ear-related developmental anomalies in patients with mandibulofacial dysostosis.

Among the conditions that arise from disturbances in development of the first two branchial arches, the symmetric syndrome of mandibulofacial dysostosis and the asymmetric anomalies of the hemicraniofacial microsomia represent a characteristic pattern of craniofacial malformation distinct from other first and second arch syndromes. Since the usual embryonic aberration in both of these anomalies involves the first and second branchial arch derivatives, malformations of the external and middle ear are common. The external auditory canal is absent in the vast majority of the cases. Incudomallear deformities are usually present. In this paper, radiographic analysis of the ear-related developmental anomalies of 17 patients with mandibulofacial dysostosis is described.

Is the mandible intrinsically different in Apert and Crouzon syndromes?

Relative mandibular prognathism is an observed finding in Apert and Crouzon syndromes. This imbalance in the facial profile is generally attributed to the diminished growth of the maxilla, thereby increasing the disparity between maxilla and mandible with increasing age. What is not known is whether the mandible is, indeed, normal. Previous work by Kreiborg with Crouzon syndrome led to the conclusion that the mandible, although somewhat smaller, grew in a "normal" pattern. Our own observations, which used a greater variety of mandibular measurements on patients with both Apert and Crouzon syndromes, corroborated Kreiborg 's conclusions but go further to suggest a syndrome-specific mandibular malformation. Ramal height was found equal to the norm and sometimes greater. Mandibular body length was significantly shorter, thereby producing a distinctly different ramus/body length ratio, particularly in older patients. These findings become significant in the planning of reconstructive procedures. They also raise the question as to whether the shape of the mandible is genetic in origin or is an adaptation to the increasing derangements of the cranial base, maxilla, and occlusion observed with maturation in these patients. The possibility of interactive genetic and environmental factors affecting growth of the mandible emerges from the data.

Congenital sensorineural hearing loss.

The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature.

This is a report of a family with lymphedema praecox and cleft palate. The mother had only lymphedema of the lower extremities; she gave birth to five sons, 3 of whom had both lymphedema of the lower extremities and cleft palate. Others have reported similar associations in the literature without calling attention to their relationship. In familial cases, an autosomal dominant mode of transmission with variable expression has been suggested. A common pathogenetic mechanism that might account for the localized lymphedema and associated cleft palate can only be speculated at this stage of our understanding of the condition.

Monozygotic twins discordant for Ullrich-Turner syndrome.

Ullrich-Turner syndrome occurred in one of a pair of female twins. The chromosome constitution of the affected twin was 45,X/46,XX and that of the normal twin 46,XX. Investigation of banded chromosomes, red cell antigens, HLA types, red cell enzymes, and serum proteins indicates monozygosity. The twins are discordant for height, pterygium colli, ovarian function, strabismus, dental eruption, external ear formation, hearing loss, and performance scores on the Wechsler Intelligence Test. All of these differences can be attributed to X monosomy in one cell line in the affected twin, presumably resulting from mitotic nondisjunction or anaphase lag early during embryonic development. Ten other pairs of apparently monozygotic twins discordant for the Ullrich-Turner syndrome have been reported previously, and the findings in these cases are reviewed.

The external ear, mandible and other components of hemifacial microsomia.

This report is based on an analysis of 100 patients with the unilateral form of HFM, in which the patients presented no other known craniofacial or extracranial malformations. The analysis was based on a three level gradation of severity of the external ear and the mandible, resulting in nine different combinations. This analysis of selected components of the syndrome clearly illustrates the phenotypic heterogeneity within the sample. It also follows that treatment should be guided by the number and severity of the affected components.

Terminal transverse defects with orofacial malformations (TTV-OFM): case report with mandibular prognathism and submucous cleft palate.

Terminal transverse defects of varying severity, ranging from aplasia of phalanges and digits to hemimelia, have been reported in association with various orofacial malformation. Temtamy and McKusick (1978) introduced the term "terminal transverse defects with orofacial malformations (TTV-OFM)" as a formal genesis syndrome (etiologically undefined) to include the following clinical entities: (1) aglossia-adactylia syndrome; (2) ankyloglossum (superius) syndrome; (3) Hanhart syndrome; (4) ectrodactyly with OFM; and (5) Möbius syndrome with digital malformations (including the Charlie "M" syndrome). This report describes a patient whose phenotypic characteristics qualify for inclusion under this heading, but with facial features somewhat different from those previously reported in the literature including the presence of an eccentric submucous cleft of the hard palate and zona pellucida of the soft palate.

Bony interorbital distance (BIOD), head size, and level of the cribriform plate relative to orbital height: II. Possible pathogenesis of orbital hypertelorism.

This investigation was designed to test hypothesized pathogenetic mechanisms for orbital hypertelorism (OrH). Serial measurements of bony interorbital distance (BIOD), level of cribriform plate relative to orbital height (LOCP), and cranial width (CW) were made from postero-anterior cephalometric radiographs on two pathologic groups craniofacial clefts (FC) and premature craniofacial synostosis syndromes (PCS) compared with normal controls matched for age and sex. Both groups of malformations showed significantly larger mean values (P less than 0.01) for BIOD alone and when adjusted for CW. The LOCP relative to the orbital height was found to be positioned at a significantly lower level (P less than 0.01) than the norm in both groups. When the growth increments for BIOD were plotted to analyze rates of growth, individuals with FC showed increments similar to those seen for the normal. However, patients with Apert and Crouzon syndromes showed greater than normal increments for BIOD. In these cases, the LOCP remained at a relatively lower level in relation to orbital height. These findings support the hypothesis of a time-specific event during fetal development causing morphokinetic arrest in FC syndromes. In Apert and Crouzon, another mechanism continuing postnatally produces OrH.

Genetic services at a center for craniofacial anomalies.

Advances in medical genetics and syndrome delineation have demonstrated that many clinical entities are an expression of genetic variability. Assessment of the population at the Center for Craniofacial Anomalies of the University of Illinois Medical Center at Chicago provided a measure of the need for genetic diagnosis and counseling. While it is recognized that this experience is not necessarily representative of that prevailing at other centers, this report provides a basis for interinstitutional comparisons. Public recognition of the need and consequent demand for genetic services is increasing. The inevitable conclusion is that genetic evaluation and counseling are essential services at a center for craniofacial anomalies.

Nasopharyngeal dysmorphology in the syndromes of Apert and Crouzon.

Results of this cephalometric study of the dimensions of the nasopharynx in the syndromes of Apert and Crouzon concur with information previously reported both from this and other centers, enlarging the data base to direct attention to changes in these dimensions with growth of the patient. Alterations of the nasopharyngeal architecture in these syndromes include reduction in pharyngeal height, width, and depth; increased length and thickness of the velum; decreased length of the hard palate; and marked reduction in the posterior cranial base with somewhat less remarkable changes in the anterior cranial base. Increased basilar kyphosis evident in some patients contributes to the reduction in nasopharyngeal space. Most of these deviations are present early in life and tend to become worse as the patient matures. The combination of reduced nasopharyngeal dimensions and reduced patency of the posterior nasal choanae poses the threat of respiratory embarrassment and cor pulmonale, particularly in the young child.

Progressive bony dysplasia in Apert syndrome.

Ten patients with Apert syndrome (type I acrocephalosyndactyly) were studied. Seven of these patients were observed from infancy for periods ranging from 2 1/2 to 22 years. The patients presented with limited joint mobility and were found to have multiple radiographic abnormalities, including subluxated or flattened humeral heads, irregularities of the glenoid cavity, and early fusion of the calcaneus to the cuboid bone. The limitation of motion and bony defects were progressive, suggesting that Apert syndrome is a generalized dysplasia.