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LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Understand the etiology and pathogenesis of facial dysostosis syndromes. 2. Recognize and classify common facial dysostoses. 3. Understand the different management plans for the reconstruction of facial dysostoses. The wide spectrum of craniofacial malformations makes classification difficult. A simple classification system allows an overview of the current understanding of the etiology, assessment, and treatment of the most frequently encountered craniofacial anomalies. Facial dysostoses are reviewed on the basis of their diverse etiology, pathogenesis, anatomy, and treatment. Conditions discussed include craniofacial microsomia, Goldenhar syndrome, Treacher Collins syndrome, Nager syndrome, Binder syndrome, and Pierre Robin sequence. Approaches to the surgical management of these conditions are reviewed.
Since the second year of her life a now 32-year-old woman had growth retardation and recurrent diarrhoea, caused by exocrine pancreatic insufficiency. During intermittent treatment with pancreatic enzymes the diarrhoea ceased and she gained weight. In the course of the illness she had to undergo several orthopaedic operations. Radiological examinations had revealed metaphyseal dysostoses. At the age of 14 years the marked growth retardation stimulated further clinical investigation. The growth retardation, compensated exocrine pancreatic insufficiency and peripheral dysostoses established the diagnosis of Shwachman syndrome, although there was no neutropenia. The severe exocrine pancreatic insufficiency, confirmed by pancreatic function tests, was probably compensated by extrapancreatic lipases, and pancreatic enzyme substitution therefore was unnecessary.
A female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyelids, and absence of external ears. Radiological examination showed hypoplastic pectoral and pelvic girdles, short humeri and femora, with absence of forearms and legs, and oligodactyly of upper limbs. Her mother has triphalangism of the left thumb and a hypoplastic right thumb with stiff metacarpophalangeal joint. She also has downward-slanting palpebral fissures, malar hypoplasia, and deepset eyes. This observation offers an opportunity to revisit the acrofacial dysostoses syndromes, including Nager-Reynier syndrome, Genée-Wiedeman syndrome, and lethal forms.
The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders combining defects of craniofacial and limb development. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genée-Wiedemann or Miller syndrome. The former appears to be about twice as common as the latter with well-documented autosomal dominant and recessive occurrences in both conditions. Only 1 AD occurrence of POADS is known, but 5 sets of sibs are suggestive of AR inheritance. Heterogeneity of apparently nonsyndromal AFD of both types is powerful support for the hypothesis that the AFDs are polytopic field defects arising during blastogenesis. Six other previously described forms of AFD include the AFD syndrome of Kelly et al. (AR), the Rodríguez or Madrid form of AFD (AR or XLR), the Reynolds or Idaho form of AFD (AD), the Arens or Tel Aviv type of AFD (AF?), the presumed AR AFD syndrome of Richieri-Costa et al., and the AD Patterson-Stevenson-Fontaine syndrome. Here we review the AFDs and report on a previously apparently undescribed autosomal or X-linked dominant form of AFD with mental retardation in a Sicilian mother and her 4 sons.
We describe a stillborn girl with an unclassified form of mandibulofacial dysostosis, a postaxial defect of the right, and a preaxial defect of the left hand. The Nager syndrome is characterized by preaxial limb defects, whereas the Genée-Wiedemann syndrome (= Miller syndrome) by postaxial limb defects. We briefly review the established acrofacial dysostoses (AFD) and discuss the position of our case in the current classification.
Because of the presence of microphthalmos and cataract and the absence of auricular deformations the François syndrome belongs to neither the craniofacial nor the mandibulofacial dysostoses. TeleXray measurements revealed forward dislocation of the mandibular joint. A proposal to speak of basocraniofacial dysostosis in the cases of Hallermann-Streiff-François is made.
Six patients with midface retrusion secondary to craniofacial dysostoses were evaluated by computer assisted tomography (CT) before and after surgery. Computer reformated life-size images were generated for linear measurements and for assessing the encroachment upon the orbit of the anterior and middle cranial fossae, the lateral displacement of the ethmoids, and the retrusion of the maxilla. Dynamic ocular CT demonstrated alterations in the angle of divergence of the optic nerve with globe movement which made measurements of that angle an unreliable assessment of hypertelorism. Surgical separation of the midface from the base of the skull was shown to be a fracture within the palatine bones between its horizontal and pyramidal processes. The integrity of the antral walls was preserved in all patients, in contrast to the comminution seen with traumatic LeFort III fractures. CT evaluation of patients with midface retrusion has further defined the nature of their anomalies, facilitated operative planning, demonstrated the osteotomies in vivo and reduced radiation exposure.
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The incidence and associations of axial segmentation defects were examined in a series of perinatal autopsies. Variations in vertebral morphology (whether changes in overall numbers or homeotic transformations from one morphological type to another) and of number of well-formed ribs were common, and both were associated with extraskeletal malformations. Rudimentary cervical ribs were present in almost half of all cases and were not specifically associated with extraskeletal abnormalities. Radiographs of all fetuses and infants at autopsy are recommended as they may uncover axial skeletal abnormalities.
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