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Facial malformations and spinal anomalies. A predictable relationship.

Facial malformations have generally been associated with spinal anomalies, but this report reviews patients with specific facial abnormalities and attempts to document accompanying spinal anomalies. The results indicate that the most common types of facial malformations vary predictably in their influence on spinal or other musculoskeletal abnormalities. Apert and Goldenhaar syndromes are associated with significant spinal anomalies.

Acrocephalosyndactylia↗
PubMed1990

[Soft tissue configuration in certain syndromes of the head and neck].

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.

Acrocephalosyndactylia↗
PubMed1988

[Associated morphological anomalies of the face and brain in infants].

Thirty-nine malformations and morphological abnormalities of the brain are analysed among a group of 300 children presenting facial malformations or dysembryoplasias (13%) between 1979 and 1986. Holoprosencephaly was discovered associated with bilateral labiomaxillary cleft in 25% of cases and an abnormality of brain stem was observed in 13% of cases with maxillo-mandibular dysostosis. This high incidence, due to the bias of hospital recruitment, confirms the recent experimental studies on embryonic development demonstrating the common neural origin of the face and brain, between which there is a topographic correspondence. To the nasofronto-premaxillary structures corresponds the whole prosencephalon and to the maxillo-mandibular areas correspond the brain stem and its nerves. The demonstration of the neural crest's role in the morphogenesis of the facial mesenchyme, the meninges and the nerves further confirms these associations of malformations in phacomatoses or neurocristopathies. Thus, the face appears as a marker of the development of the brain.

Abnormalities, Multiple↗
PubMed1981

Current surgery of craniofacial anomalies.

Craniofacial dysplasia is a term covering all types of skeletal anomalies. Craniofacial surgery has made possible the movement of any bone of the face or skull to correct such deformities. Such surgery is a new and separate subspecialty and should be limited to a few regional centers. There are numerous osteotomies available. The common ones are the Le Fort I, II, and III for advancement of different segments of the midface, orbital hypertelorism correction converting each orbit into a box, which moves medially together with the eyeball, and advancement of the forehead to correct premature coronal synostosis in infancy or forehead recession in Crouzon's or Apert's syndrome. In hemifacial microsomia, the asymmetrical skeleton is rotated about the facial midline to produce symmetry, and the mandibular ascending ramus and temporomandibular joint are constructed if absent. Combinations of the various osteotomies are possible, depending upon the type of deformity as assessed by the craniofacial team. Psychosocial study indicates that surgical correction should be undertaken as early as is technically feasible. The four main complications are death, blindness, brain damage, and infection.

Adolescent↗