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We present the case of a 7-year-old child with Aspert's syndrome who was diagnosed as suffering from childhood autism. As far as we are aware this is the first described association between autism and acrocephalosyndactyly syndromes. We discuss issues regarding the diagnosis and co-morbidity of the autistic spectrum disorders.
BACKGROUND: Several craniofacial deformities and syndromes feature hypoplasia of the midface skeleton. Until now different treatment options were based primarily on a modified LeFort III osteotomy: (1) the conventional LeFort III osteotomy with bone transplantation and intraoperative osteosynthesis, (2) distraction using subcutaneous distraction devices fixed on both sides at the os zygomaticum, and (3) bone distraction using a rigid external distraction device (RED distractor), which is fixed to the skull and pulling at the maxilla or the upper teeth. METHODS AND RESULTS: A modification of the distraction technique using the RED distraction device is presented. The tensile forces are applied to the ramus infraorbitalis or the apertura piriformis, and the tensile wires penetrate through the skin laterally to the nose. By using this new approach near the center of rotation or the center of resistance, optimal control of the vector of distraction is guaranteed. With sufficient distraction of the midface, overcorrection of the os zygomaticum can be avoided. Clinical data of seven patients are presented. DISCUSSION: Due to the good clinical results, external transfacial distraction with tensile forces pulling at the apertura piriformis seems to improve the treatment of these complex facial deformities.
BACKGROUND: The success of LeFort III-osteotomy with concurrent advancement of the midface in cases of severe, midfacial hypoplasia is limited by the soft covering tissue of the facial skeleton. There appear to be significant advantages in using distraction osteogenesis of the midface after surgery. CASE REPORT: We discuss the use of an extraoral distraction device after the osteotomy of a 10-year-old girl with Crouzon's disease. and the use of an internal device for a 6-year-old boy with severe midface hypoplasia following Apert's syndrome. RESULTS: In both patients a significant improvement of function, as well as harmonisation of the facial proportions, could be observed and the preoperatively planned distances of midface advancement of 18 and 15 mm respectively could be achieved. DISCUSSION: Distraction osteogenesis is an established procedure for the treatment of mandibular hypoplasia but few reports dealing with complex midface distraction are available outside of the specialist English language literature. We report on both external and internal distraction techniques with which good functional and aesthetic results were achieved.
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Five of nine patients with Apert's syndrome (acrocephalosyndactyly) showed an associated hypopigmentation of hair, skin, and eyes. The hair color of these five patients ranged from light brown to blond, the skin was pale, and the irides hazel or blue. Iris transillumination and hypopigmentation of the fundus were present and associated with absent or diffuse foveal reflexes. Unlike most forms of classic oculocutaneous albinism, however, there was good visual acuity and no pendular nystagmus. The evidence indicated that the lack of pigmentation associated with the characteristic skeletal anomalies of Apert's syndrome resulted from a disturbance of independent, genetically related, processes occurring at a common point in gestation.
Eleven children had Apert's syndrome and bilateral superior oblique muscle palsy. Of seven patients who underwent surgical exploration of the superior oblique muscle area, five had no superior oblique tendon in either eye and two had only a small fibrous band as a remnant in each eye. All 11 patients had a significant horizontal deviation in primary gaze and downgaze, in addition to a vertical imbalance. The findings led to the conclusion that all patients with craniofacial anomalies, especially those with Apert's syndrome, should be examined for the presence of vertical muscle palsies and particularly bilateral superior oblique muscle palsy.
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Biostereometrics is an accurate anthropometric system for quantifying geometric changes of facial form and the relationship of features as they are influenced by growth and by surgery. Facial features distant from the site of surgical intervention are influenced in their geometric relationship to each other by changes in the soft-tissue drape brought about by manipulation of skeletal tissues. The most accurate coordinate system should be elsewhere than on the surface of the face, but if this is not possible it should be in an area farthest removed from the surgical site. This investigation demonstrates that a usable coordinate transformation system can be created by connecting points supernasale and subnasale for establishing the Y Z plane and the construction of the X Z plane at subnasale. Accurate comparative numerical measurements can be made by using soft-tissue landmarks.
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.
It has been recognized that using the maxillary teeth to deliver extraoral force to the maxilla not only results in sutural remodeling but also periodontal remodeling and tooth movement. In patients with severe maxillomandibular malrelationships, the potential for tooth movement often limits the amount and duration of extraoral force and, consequently, affects the success of treatment. This case report describes a technique to intentionally ankylose deciduous teeth in a patient with severe maxillary retrusion. The ankylosed teeth were used as abutments to deliver an anteriorly directed intermittent extraoral force. After 12 months of treatment, the anterior crossbite was nearly corrected. At that point the ankylosed teeth loosened because of root resorption and the treatment was terminated. Cephalometric superimposition demonstrated that the occlusal correction was the result of anterior maxillary movement with little mandibular growth and no movement of the ankylosed teeth. The results suggest that intentionally ankylosed teeth may be used as abutments for extraoral traction in patients with a severe disturbance in maxillary growth.
Twenty-five children with Apert's syndrome, characterised by craniosynostosis and symmetrical syndactyly of hands and feet, were seen by a psychosocial team. The patients ranged in age from 1 month to 15 years. All had undergone synostosis release in the first year of life and were being assessed for craniofacial reconstructive surgery. Psychosocial adjustment was evaluated using a semistructured interview, psychometric testing. Piers-Harris Self-concept Inventory and Hay's Appearance Rating Scale administered by a team consisting of a child psychiatrist, psychologist and social worker, 6 months before surgery and 1, 2 and 4 years after surgery.
The effectiveness of the "floating forehead" operation for treating brachycephaly in infants has been assessed. All children who had undergone this procedure at the Hôpital des Enfants Malades between 1977 and 1984 were reviewed retrospectively by an independent observer. Particular attention was paid to the effects on cranial growth, facial growth and morphology.
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The timing of surgery for craniosynostosis is still controversial. Having used the same basic techniques since 1973, and having done follow-up on the growth of our 983 operated patients, we thought it useful to report our protocol. Early frontocranial remodelling is performed between 2 and 4 months for brachycephalies, but the other craniosynostoses are operated on between 6 and 12 months of age. When diagnosis is made later, we perform the same operations until 4 years of age, with some modifications, such as a tongue in groove advancement for brachycephalies, and a complete closure of the bony defects after 2 years of age. Later on, facial distortion and frontal sinus development complicate the surgery. For syndromal craniofacial synostosis, we prefer to perform a two-step operation: forehead advancement first, facial advancement later, to avoid the risk of frontal osteitis. The frontofacial monobloc is indicated, in our opinion, for severe exorbitism in infancy but otherwise we prefer a two-stage procedure. Facial bipartition is necessary to narrow the upper face and widen the maxilla in Apert's syndrome.
Since few data on the reproductive outlook of patients successfully treated for lymphoproliferative disease are available, further experiences on the pregnancy outcome and offspring follow-up of 12 women treated for acute lymphoid leukemia and 7 women treated for malignant lymphoma are reported. Of the 20 pregnancies of leukemic patients in remission, 14 ended in live births, one in spontaneous abortion, and 5 in elective abortions among which one was performed during relapse. One minor (hip dysplasia) and one major birth defect (Apert syndrome) were seen. The Apert syndrome baby is considered as a new mutation. Of the 9 pregnancies of lymphoma patients 5 ended in normal births and 4 in elective abortions. Neither relapse nor malformation was encountered. One leukemic patient had gestational edema and one lymphoma patient had puerperal thrombophlebitis of lower extremity. The offspring of the above patients appropriately developed and had no complication except for one with cephalhematoma and for another one with epilepsy attributed to birth injury.
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Explore the source record for details and available documents.