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The Treacher-Collins syndrome is characterised by an anti-mongoloid slant of the eyes, hypoplasia of the facial bones, in particular the the mandible, and malformations of the external and middle ear with hearing loss. Early diagnosis of hearing defects is of prime importance as nowadays suitable treatment can prevent the resulting delay in speech development and secondary intellectual retardation.
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This is a typical case of Hallermann-Streiff-Francois Syndrome in which the glaucomatous complication may be caused by developmental malformations in the anterior segment of the eye. Bilateral trabeculectomy succeeded in controlling the tension after a follow-up of two years. Glaucomatous complication seems to be frequent and as important as the other described cardinal symptoms. The histologic examination of the skin confirmed the atrophic changes that were observed clinically.
The Oro-mandibular-limb-hypogenesis-syndrome is a combination of rare malformations. The etiology is unknown. Early reconstruction of the mouth and orthopedical care are described. The psychological management of the parents and the early contact between mother and child are important.
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Neurological and cerebral computed tomography examinations were conducted in 25 infants and young children with uni- or bilateral maxillomandibular neurocristopathies (Goldenhar's, Franceschetti's first arch syndromes or transient forms). Taking all lesions into account, 18 children (82%) presented morphological and motor anomalies of the brain stem (mesencephalus, metencephalus) and its corresponding cranial nerves: four had morphological anomalies of the cerebellum and pons; four presented disorders of bulbopontine control (heart, lungs, deglutition); fifteen demonstrated sensory, sensorial, and motor deficiencies of the paired cranial nerves III, V, VI, VII, and VIII. The high frequency of ocular malformations in this series is emphasized: there were three cases of cryptophthalmia and one case of bilateral iris coloboma. These findings are in agreement with recent acquisitions in the field of cephalic developmental biology: the cephalic neural crest cells, after migration from the mesencephalorhombencephalic neural fold, contribute to the latero-facial and ocular organogenesis. The unity of origin of the face and brain provides an explanation for the predictive role of the former in case of malformations of the brain and its cranial nerves.
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The authors present a case of otocraniofacial syndrome with asymmetric involvement (hemifacial microsomia) in monozygotic twins discordant for the syndrome. Only a few cases of discordance in monozygotic twins have been previously describe in world literature. The occurrence of discordance in identical twins indicates the significance of exogenous factors. The patient had bilateral involvement right side being more severely involved than left side. Conductive hearing loss due to middle ear abnormalities was also present. Usefulness of tomographic examination to study structural ear abnormalities is emphasized, and some comments on the otologic involvement in this syndrome are made.