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Clinical orofacial symptoms of the following genetic syndromes are described: Apert, Cornelia de Lange, Crouzon, Mongolism, Cleidocranial dysostosis, Oral-facial-digital, Treacher-Collins, and Van der Woude. Characteristic cases are illustrated.
This paper updates three clinical research projects involving the central nervous system. Discussions of conditions with encephalocele include several associations: encephalocele/craniostenosis, transsphenoidal encephalocele/hypothalamic-pituitary dysfunction, encephalocele/oculo-auriculo-vertebral spectrum, and encephalocele/frontonasal dysplasia. The relationship between oculo-auriculo-vetebral spectrum with encephalocele and frontonasal dysplasia with epibulbar dermoids and ear tags is also discussed and an explanation for encephalocele formation in the Apert syndrome is provided. Studies of the central nervous system in Apert syndrome indicate that distortion ventriculomegaly is common, but progressive hydrocephalus occurs infrequently. A recurrent pattern of abnormalities was discerned consisting of megalencephaly, gyral abnormalities, and defects of the corpus callosum and limbic structures. Five neuropathologic studies lend further support to this pattern of CNS anomalies in the Apert syndrome. In a study of holoprosencephaly, eight principles governing associated facial dysmorphism were derived. Each diagnostic category was shown to have its own frequency and range of holoprosencephalic faces. Some categories, such as del(13q), have narrow ranges; others, such as trisomy 13 syndrome, have broad ranges. However, no broad diagnostic range is known to include agnathia-holoprosencephaly and other severe forms of facial dysmorphism without agnathia. Absent maxillary incisors and a single maxillary central incisor are extremely common in holoprosencephaly with severe facial dysmorphism and may occur on occasion as a striking microform of holoprosencephaly, most commonly in the autosomal dominant form.
This is a longitudinal study of 12 patients with craniofacial synostosis syndromes (Crouzon's, Apert's, Pfeiffer's) who underwent Le Fort III advancement under the age of 7 years (average age 5.1 years, range 4.0 to 6.7 years). The average follow-up was 5.0 years and included clinical, dental, and cephalometric examinations according to a prescribed protocol. The study demonstrated that the procedure could be safely performed in the younger child with an acceptable level of morbidity. There was a remarkable degree of postoperative stability of the maxillary segment. However, although vertical (inferior) growth or movement of the midfacial segment was demonstrated, there was minimal, if any, anterior or horizontal growth. Any occlusal disharmony developing during the period of follow-up could be attributed to anticipated mandibular development and could be corrected by orthognathic surgery. The roles of surgical overcorrection and anterior-pull headgear therapy after release of intermaxillary fixation are also discussed. The Le Fort III osteotomy is justifiably indicated during early childhood for psychological and physiologic reasons.
The accurate and reproducible determination of the three dimensional (3D) co-ordinate positions of anatomical landmarks from computer tomography (CT) images has been limited even though potentially the data have been available for several years. This paper describes a method of acquisition of osseous landmark positions using an off-line computing technique based on multiple stereo images of 3D CT reconstructions. The use of stereo pairs greatly enhances the consistent identification of osseous landmarks. Further, the technique is of particular value where access to the CT scanner is restricted due to heavy clinical demand and separate high quality graphics facilities are unavailable. Osseous landmark position data were determined for dried skulls and patients with craniofacial conditions. Accuracies of the order 1.7mm (median) were obtained. These results encourage the use of the technique for acquisition of landmark positions for the study of the craniofacial complex in three dimensions.
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A weak minded man aged 31 years exhibited with moderate acrobrachycephalia, basal cutaneous syndactylies of the 2nd and 3rd fingers, marking symptoms of the Saethre-Chotzen syndrome (SCS), with dominant inheritance in three generations. Additionally there were symptoms of Ascher's syndrome, blepharochalasis, goitre and broad lower lip. The psychic maldevelopment is considered in association with a syndrome of the frontal lobe. Severe craniostenosis is rare at SCS; cosmetic handicap and obstruction of the nasal airway can be corrected by craniofacial surgeon.
The "mask lift" is a new surgical technique based on a different and revolutionary approach to the "aging face". The author presents her experience with 130 cases since 1981.
Monobloc fronto-facial advancement (TESSIER's technic) seems to be the best therapeutic to correct retromaxillia, sequellae of cranio-facio-stenosis. From an aesthetical and functional point of view the result is more satisfactory than with a simple LE FORT III osteotomy advancement. Intermaxillary fixation is not necessary. Of course an orthodontic sequence must be associated to correct dental malposition.
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The authors report a case history of bilateral coronal synostosis in Apert's syndrome, treated by fronto-orbital band resection and linear craniectomy of the pathologic sutures. The authors emphasize the rapidity of this procedure, its safety for fragile children and its immediate results.
After an experimental study on biodegradable implants for fixation purpose in skull plasties of the minipig we began a clinical trial. Six children aged 1-18 years and suffering from trigonocephaly, Morbus Apert and Morbus Crouzon as well as plagiocephaly underwent a reconstructive procedure of the skull and midface, mostly frontal advancement. The different part of skull have been fixed by biodegradable implants made of polylactate acid. Another two infants, one with a skull defect after removal of an encephalocele and the other for reconstruction of the skull after open cerebral injury and consecutive osteoclastic trepanation, have been treated with skull splitting. The two halves of the skull have been fixed by biodegradable material too. The follow-up of these 8 children now is from 2-20 months (medium 10 1/2 months). From the aesthetic point of view as well as from radiological and clinical signs we judge the result as good as with conventional materials, for example wire loops. No material had to be removed and CT scans show a fully resorption of the implants. The present paper shows the preoperative, intraoperative and postoperative evolution.
The authors examined a 2-month-old infant with clinical signs of Pfeiffer's syndrome (craniosynostosis, abnormalities of the extremities, normal psychomotor development). In the family other affected cases were revealed with a variable expressivity of the clinical signs. The authors draw attention to the importance of a detailed clinical, X-ray and anthropometric examination of different members of the family to detect carriership of the gene for ACS.
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The advantages rendered by corrective osteotomies that mobilize large segments of the craniofacial complex, including the forehead, orbits, and maxillae, exceed those of any partial correction in this particular region. This fact has been fully demonstrated in recent years by different authors. An inconvenience of early correction of major craniofacial deformities is relapse at the maxillary level, mainly because of the lack of adequate dental occlusion. Rigid fixation methods have been used in surgical correction of Crouzon's disease and Apert's syndrome in order to preserve the position of the mobilized segments. In Crouzon's cases conventional monoblock advancements were performed, using anchor wire osteosynthesis at the frontal region and two metal plates attached to the temporal bone to support the middle third of the face. In Apert's syndrome cases, a monoblock advancement modified by the facial bipartition concept was the selected procedure to obtain a three-dimensional correction. Because a midfacial vertical elongation was necessary, a third plate joins the hemi faces, fixing them to the intermediate frontal bar. Advantages of this method have been demonstrated over the past 2 years. Sixteen children had a one-stage reconstruction by multiple osteotomies and extensive, combined mobilizations of the craniofacial complex. Successful long-lasting corrections attest to the efficacy of this fixation method.
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Congenital malformations of the hand may be present as part of syndromes. The recognition of these syndromes directly influences the surgical care of the hand anomaly. The natural history of the disorder may be predicted. The associated malformations may affect surgical timings and the indications for surgical correction. Various schema are presented here for evaluating the common abnormalities of the hand--radial club hand, ulnar defects, syndactyly, and polydactyly.
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