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The surface dysmorphology of the head in Apert syndrome has been known for a century. Recent advances in computer-assisted medical imaging technology allows in vivo nondestructive "dissection." The authors have used this technology to study the subsurface craniofacial dysmorphology of 14 patients with Apert syndrome ranging in age from infancy to adulthood.
The authors present the objectives, timing, techniques, and results of surgery for the dysmorphology of the cranium, orbits, nose, midface, and mandible of patients with Apert syndrome based on personal experience with 14 patients and comprehensive review of the literature. The status of hypotheses generated in the early phase of craniofacial surgery is discussed. Published schedules for longitudinal treatment are examined and a preferred plan proposed.
The craniofacial anomalies in Apert syndrome are some of the most obvious manifestations of a systemic disorder directed by an abnormal genome (pleiotropy). Although our knowledge of etiopathogenesis is woefully inadequate, imaginative surgical techniques have evolved to correct the major functional and aesthetic problems in this syndrome. During infancy, the frontal (or nasofrontal) skeleton is modeled and advanced in order to protect the proptotic globes and to expand the anterior cranial fossa. This procedure also sets the stage for midfacial advancement, accomplished in either early or late childhood. The timing depends on indications, both physiologic and psychologic. Subcranial midfacial advancement, with a variety of technical alternatives, is a safe procedure with an acceptable aesthetic outcome. For some children with prominent hypertelorbitism, a facial bipartition or another variation on orbital translocation may be indicated. By adolescence, the extent of normal mandibular growth beyond the lagging midface becomes obvious. After completion of skeletal growth, these patients benefit from adjustments of the maxilla and the mandible and by procedures to refine the forehead, eyelids, nose, and chin. Until the mechanism of acrocephalosyndactyly I is understood, further technical improvements are needed before these patients have a truly "normal" face. More attention should be focused on correction of the entire cranial vault.
Although the cause of the midfacial anomalies in Apert syndrome is still elusive, a great experience has accrued in the management of these physically and psychologically handicapping deformities. An interdisciplinary approach that includes input from an orthodontist, pediatric dentist, and oral and maxillofacial surgeon should be an integral part of the management of affected patients. This theme of surgical-orthodontic-dental communication and interaction is stressed and illustrated throughout the article.
Most patients with Apert syndrome experience some degree of upper airway obstruction during the first few years of life. The pathophysiology of this form of obstruction and the clinical features are covered in detail in this article. Sleep apnea syndrome is seen commonly in association with Apert syndrome. The investigation of sleep apnea and various therapeutic modalities used to relieve the airway obstruction are presented. In addition, the otologic aspects of Apert syndrome are discussed.
Patients with Apert syndrome inevitably have ocular problems. These include proptosis, strabismus, amblyopia, optic atrophy, and occasionally papilledema. Visual loss or blindness is a real possibility and can be avoided. Craniofacial surgery, while alleviating proptosis, may cause an alteration in strabismus, visual loss, and tearing problems. These children should always be assessed and followed by an ophthalmologist as part of the craniofacial team.
This article contains a summary and classification of the major abnormalities seen in both upper and lower extremities associated with Apert syndrome. Whereas rationale and results of treatment of the thumb, hand, foot, shoulder, and elbow can be found in specific articles in this issue, detailed analysis of the anatomy found in the wrist and hand is presented in this article.
The thumb in a child with Apert syndrome provides the key to hand function. The characteristic "hitchhiker" posture or radial clinodactyly of these short but broad digits is caused by an abnormal proximal phalanx. Along with the shortened and radially deviated proximal phalanx, the first webspace (thumb-index) is always deficient. This article details the authors' anatomic observations of these abnormal thumbs and their rationale for treatment.
Clinical and radiographic follow-up study of the elbow and shoulder in 19 children and adults with Apert syndrome demonstrates that these two joints are affected to varying degrees. Shoulder motion is never normal and may be quite restricted, with the progression of growth abnormalities of the proximal humerus and accompanying glenoid dysplasia. Limitation of abduction is secondary to an impingement of an overgrown greater tuberosity upon the acromion. Clinically, these children appear to have anterior subluxations. Elbow motion is limited in a much smaller percentage of patients and was not a significant problem unless elbow fusion occurred. A radiocapitellar dysplasia was associated with a mean 30-degree extension loss in 7 of 19 patients. Two patients had no elbow motion.
Foot deformity in Apert syndrome is very characteristic and predictable. Progressive synostosis occurs on what is presumably an unsegmented cartilaginous mass. The first ray shortens with medial deviation of the great toe, secondary to growth abnormality and a delta phalanx. The two phalanx digits characteristically go on to fusion, with maintenance of minimal motion at the metatarsal phalangeal joints. The midfoot and hindfoot progress to characteristic fusion in a supinated position. There is prominence of the fifth metatarsal with callosities under the fifth and third metatarsal heads in all patients. Orthotic and surgical management of these conditions is necessary to ensure maximal function in the symptomatic Apert patient.
The involvement of the lower extremity in acrocephalosyndactyly has received less attention than the craniofacial and upper extremity anomalies. The lower extremity deformities are progressive and require greater attention as the patient grows older. The stiffness of the hips and mild to moderate genu valgum rarely, if ever, require intervention. Foot and toe deformities lead to difficulty with malalignment, painful stresses, and shoe wear. Each of these must be dealt with individually, placing emphasis on the underlying bony abnormality.
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The purpose of the paper is to describe and analyze the infant Apert skull with emphasis on the calvaria and its early postnatal development. Skull radiographs of 16 Apert syndrome patients were examined (12 American, 4 Danish; 8 males, 8 females). The criterion for inclusion in the study was that the first skull film had to be obtained before 1 year of age. Study methods employed included plain skull radiographs, roentgencephalometric films in several projections, CT-scans, and 3-D reconstructions. Data from 2 dry skulls and 2 early cases from the literature were also evaluated The following findings were common to all cases during early infancy (less than 3 months): The coronal suture area was prematurely closed and was represented by a bone condensation line beginning at the cranial base, extending upwards, and having a characteristic posterior convexity. Anterior and posterior fontanelles were widely patent. The midline of the calvaria had a gaping defect which extended from the glabellar area to the posterior fontanelle via the metopic suture area, anterior fontanelle, and sagittal suture area. Bony islands of varying sizes were observed in the midline defect. The calvaria was hypomineralized. During the first 2-4 years of life, the midline defect was obliterated by coalescence of the enlarging bony islands without evidence of any proper formation of sutures. The calvaria became thicker with time and several cases developed increased digital markings and enlargement of the sella turcica. During infancy, the Apert skull with its gaping midline defect appears to permit adequate accommodation of the growing brain, albeit distorted in shape. Normal metopic, sagittal, and coronal sutures with interdigitations were not observed in a single instance; in contrast, the lambdoidal sutures appeared normal in all cases. The invariable findings of an extremely short squama and orbital part of the frontal bone together with the posterior convexity of the coronal bone condensation line suggest that growth inhibition in the sphenofrontal and coronal suture area has its onset very early in fetal life.
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Since skin problems as decubitus and infections are well known risks in osteoplastic trepanations in congenital malformations in children, we searched for a reduction in size of the implants and the possibility to use biodegradable materials. After design of special constructions regarding dimension and stability purposes for children below one year, we performed osteoplastic trepanations in 27 minipigs. In 78% the healing was uneventful and the osteoplasty remained in place whereas in 22% (= 6 animals) we observed a local infection which lead to loss of implants as well as cranioplasty in 3 animals. Based on this research, we used our biodegradable implants in osteoplastic trepanations of congenital craniostenosis in children. The postoperative follow-up is now from 3 to 6 months in 4 children and the results are perfect in all. We did not observe any local infection, neither cutaneous problems, even not in bilateral frontal advancement and floating forehead procedures. The implants are presented as well as the results in animal research and the first follow-up in 4 children.
The authors discuss the nosological position and the aetiology of a complex of malformations affecting a boy, born at the end of a 40-week pregnancy with a weight of 1420 g and height of 42.5 cm, who died at the age of 3 1/2 months. The case presented an association of an acrocephalosyndactyly, phalangeal hypoplasias with anonychia, aplasia of the abdominal muscles, a genital hypoplasia with cryptorchidism and hypospadias, patches of lipodystrophy localised on the outside of the arms, at the folds of the elbow and the popliteal fossae. The autopsy revealed a large interventricular communication, absence of common mesentery and especially important cerebral anomalies (smooth brain, absence of interhemispherical suture, disorganization of the basal ganglia). The genetic study suggested a spontaneous abortion 2 1/2 months before the birth of the patient and revealed, in the mother, the presence of bilateral clinodactylies of the fingers and a unilateral syndactyly of the big toes.
In order to examine the relationship existing between soft tissue configuration and the underlying skeletodental framework, patients presenting severe and representative syndromes of the head and neck were studied. Grouping of these patients in three groups according to the similarities of the skeletal pattern and/or the etiology of the syndrome, provided a basis for evaluation, comparison and contradistinction of the configuration of the hard and soft tissues, in a material where genetic predetermination is dominant. By cephalometric analysis, superimposition and plotting of the soft tissues on an abstraction and relative magnification basis, the following conclusions could be formulated: a) There is a specificity in the soft tissue configuration of the face of patients with specific syndromes and, this specificity, seems to be independent of the underlying skeletodental elements in the area of the nose and the upper lip. b) A genetic predetermination of the soft tissue morphology can be deduced because, in patients with specific syndromes, the same characteristics accompany constantly the same chromosomal or gene mutations. c) Further studies along these lines might throw more light on the role of genetics in soft tissue configuration and function.
Apert's syndrome is a rare malformation (dysostosis), probably of a hereditary nature. It is characterised by craniostenosis, caused by synostosis of the coronal sutures, and by bilateral and symmetrical membranous syndactyly of the hands and feet, to which metacarpal, metatarsal and phalangeal synostoses are associated. Less frequent are dysplastic modifications in other osteo-articular regions and malformations of the viscerae. The authors expose and discuss the etiopathogenetic, clinical and radiographic aspects of this syndrome, in relation to three clinical cases which came to their observation.