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The AA. outline the principals features about the etiology, pathogenesis, clinic and therapy of the oculo-auriculo vertebral dysplasia or Goldenhar's syndrome, with the best attention about the most interesting hypotheses on the pathogenesis, like focal necrosis for hemorrhage in development of face.
In the authors' experience, correction of hypertelorbitism either by facial bipartition or by moving only the orbits has proved to be very stable. This is based on the design of the osteotomies and the use of the frontal bar. On the contrary, the rotation of the midfacial segment combined with mandibular lengthening for the correction of Treacher Collins has a strong tendency to relapse because of the backward pull of the soft tissues. Primary stability in these cases depends on the quality of bone grafts, their placement, and skeletal fixation.
The skull, face and ears of 46 patients with the unilateral form of lateral facial dysplasia were examined at the Hospital for Sick Children, Toronto, using anthropometric methods for the purpose of contributing to the morphology of this syndrome. The classical picture of unilateral facial asymmetry with microtia was found in 13 cases (28.3%). The study showed bilaterally defective mandibular arc measurements in 28 per cent of the cases. The facial damage was associated in 15 per cent with ears normal in size but defective in location, level, and shape. The anthropometric examination revealed a great variety of defects on both sides of the face, often barely detectable by routine inspection. It was also found that great deficiencies in the surface measurements were accompanied by great bone deficiencies.
A comprehensive review and critical analysis of oculoauriculovertebral spectrum are provided. Topics discussed include nosologic problems, epidemiology, etiology (chromosomal, monogenic, teratogenic), and pathogenesis (hematoma formation, other vascular mechanisms, overripeness ovopathy). Clinical manifestations are thoroughly reviewed, updated, and documented for craniofacial features, central nervous system characteristics (including the wide spectrum of CNS malformations that make up the so-called "expanded Goldenhar complex"), congenital heart defects, and various other anomalies (kidney, lung, gastrointestinal tract). A number of conditions are discussed that are commonly differentiated from oculoauriculovertebral spectrum but have overlapping relationships, in some instances, with frontonasal dysplasia, branchio-oto-renal (BOR) syndrome, Townes-Brocks syndrome, Wildervanck syndrome, DiGeorge sequence, and several associations (VATER, CHARGE, and MURCS).
Abnormalities of the secondary palate were studied in an animal model in which features of Treacher Collins syndrome (TCS) and Nager or Miller syndromes (both of which are facially similar to Treacher Collins, but include limb malformations) were induced by acute maternal exposure to 13-cis-retinoic acid (13-cis-RA, isotretinoin, Accutane). Previous work in our laboratory has illustrated that excessive cell death in the proximal aspect of the maxillary and mandibular prominences of the first visceral arch and in the apical ectodermal ridge of the limb bud probably accounts for the characteristic craniofacial and limb abnormalities observed (Sulik et al, 1987; Sulik and Dehart, 1988). The current study shows that maternal treatment with 400 mg per kilogram 13-cis-RA at 8 days 14 hours (8d14hr) or 9d6hr post fertilization results in abnormalities of the secondary palate that vary in incidence and severity. Following the earlier treatment time, 82 percent (68 of 74) of the 18d fetuses were affected, with, severely hypoplastic, unfused palatal shelves present in 34 percent (25 of 74). The less severely affected fetuses had malformations that involved primarily the posterior aspect of the palatal shelves. This malformation (foreshortening of the posterior portion of the palate) constituted the major developmental alteration that resulted from treatment at the later time, at which time a 52 percent (26 of 50) malformation incidence was seen. The change in pattern of malformations with treatment time is consistent with the changing pattern of programmed cell death, which was observed to occur in the first visceral arch.
Thirty-one patients with pathology of the external auditory canal (EAC) were examined with high resolution CT. In this retrospective study we found that CT plays an important role in the diagnosis and especially in the determination of the extent of the disease. CT also offered us a good evaluation of the contiguous bone and it was the best method to visualize the middle ear when complete occlusion of the external auditory canal (EAC) occurred.
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On the basis of work reported by colleagues, as well as our own clinical research studies of patients with the aforementioned syndromes, there are now some useful guidelines for appropriate remediation based on accurate initial diagnosis. Still, there is more to be learned about each of these syndromes. Furthermore, they represent but a small sample of a very large total. Recent literature has described the speech patterns of many more syndromes, as well as the genetic aspects of the more common speech and language disorders such as language delay, dyslexia, autism, and stuttering [72-78]. The most common recognizable birth defect is Down syndrome and there is, fortunately, a large body of information detailing the varied language, speech, and hearing aspects [79]. Those of us who work with children with Down syndrome have been alerted to the anticipated receptive and expressive language delays; the conductive and sometimes mixed hearing losses; the hoarse and raucous voices that are probably the result of a combination of anatomic, neurologic, and mucosal variations; the interesting disfluencies, and the amalgam of developmental and deviant articulatory errors. We know that although the tongue protrudes, it is rarely the true macroglossia which we would find in Beckwith syndrome, for example, but rather a hypotonic posture and a logical adaptation to an airway restricted by enlarged tonsils and adenoids and recurrent rhinitis.
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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.
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