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A case of Goldenhar's syndrome associated with fifth, seventh, and eighth nerve involvement is described. Tomographic examination of the temporal bones showed evidence of an abnormal internal auditory meatus. Otoneurological examination suggested that involvement of the seventh and eighth nerves was closely related to the abnormality in the internal auditory meatus.
A case of oculo-auriculo-vertebral dysplasia is presented, with histopathological findings in the temporal bone and eye, and some radiological features. The syndrome consists of anomalies of the first and second branchial arch derivatives associated with ophthalmic and vertebral anomalies. Although clinical features and radiological findings of oculo-auriculo-vertebral dysplasia are documented in the literature, there have been very few reports of the histopathological findings of abnormal temporal bones. These vary from our own findings. The prominent features in our case are: a small middle ear cleft, an absence of ossicles, an aberrant facial nerve, and dysplastic, short lateral and superior semi-circular canals, as well as a narrow internal auditory meatus.
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Four cases with Obstructive Sleep Apnoea Syndrome (OSAS) are presented. They consisted of two cases with TMJ ankylosis with micrognathia, one case with Treacher Collins Syndrome, and one case with the Long Face Syndrome. Standard and specific cephalometric parameters were obtained to detect the site of the obstruction. Polysomnographic studies yielded information regarding the patient's sleep-wake state, respiratory and cardiac functioning, pre- and post-operatively. A temporary tracheostomy corrected the symptoms in one patient but the syndrome recurred when it was closed. Surgical correction of the maxillofacial anomalies will re-establish normal sleep patterns preventing OSAS.
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Three children are described who show a spectrum of clinical abnormalities affecting their eyes and non ocular tissues. These entities are best explained as disorders of neural crest migration and once recognised should lead to a search for other systemic developmental disorders. The mechanism of combined facial skeleton and eye malformation is discussed in the light of our current understanding of ocular embryology, and the justification for considering these and other entities as examples of Neurocristopathies is explored.
Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, which has been localized to chromosome 5q32-33.1. In the present study, the isolation of new polymorphic markers has allowed the identification of overlapping recombination events in two affected individuals. Extension of the transcription map of the critical region proximally has resulted in the isolation of a new gene (which has been named Treacle) of unknown function. The identification of different mutations in five unrelated families, all of which would result in premature termination of the predicted protein, indicates that the Treacher Collins syndrome gene has been positionally cloned.
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In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all autosomal dominant disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included.
To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti-Klein syndrome), we performed mutation analysis in the TCOF1 gene in 46 patients with tentative diagnosis of TCS and evaluated the clinical data, including a scoring system. A total of 27 coding exons of TCOF1 and adjacent splice junctions were analysed by direct sequencing. In 36 patients with a clinically unequivocal diagnosis of TCS, we detected 28 pathogenic mutations, including 25 novel alterations. No mutation was identified in the remaining eight patients with unequivocal diagnosis of TCS and 10 further patients, in whom the referring diagnosis of TCS was clinically doubtful. There is no overt genotype-phenotype correlation except that conductive deafness is significantly less frequent in patients with mutations in the 3' part of the open reading frame. Inter- and intrafamilial variation is wide. Some mutation carriers, parents of typically affected patients, are so mildly affected that the diagnosis might be overlooked clinically. This suggests that modifying factors are important for phenotypic expression. Based on these findings, minimal diagnostic criteria were defined: downward slanting palpebral fissures and hypoplasia of the zygomatic arch. The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described.
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We report an unusual problem with fibreoptic bronchoscopy in an 8-year-old girl with Negar syndrome. She had a history of difficult airway since birth, and had undergone mandibular distraction for severe obstructive sleep apnoea when she was aged 2 years. Nagar syndrome is a Treacher-Collins like syndrome with normal intelligence, conductive bone deafness and problems with articulation. The patients have malar hypoplasia with down slanting palpebral fissures, high nasal bridge, micrognathia, absence of lower eyelashes, low set posteriorly rotated ears, preauricular tags, atresia of external ear canal, cleft palate, hypoplasia of thumb, with or without radius, and limited elbow extension. Protracted attempts with a fibreoptic bronchoscope failed to visualize the glottis, and this was only possible when the tube was guided to the larynx by blind nasal intubation. Apparently, the healing of the wounds for the mandibular distraction in the mandibular space on the inside of the rami of the mandible had caused differential fibrosis on either side of the hyoid, leading to a triplane distortion of the larynx with a left shift, clockwise rotation to a 2-8 o'clock direction and a slight tilt towards the left pharyngeal wall. The large epiglottis overlying this had precluded a view of the larynx. Finally, the older technique of breathguided intubation facilitated fibreoptic bronchoscopy to achieve tracheal intubation.
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After description of the oculovertebral syndrome Weyers-Thier a personal observation is reported. It was characterized by severe cerebral malformations (agenesis of the olfactory lobes, incomplete agenesis of corpus callosum with large sagittal arachnoidal cyst) associated with polycystic brain damage. The relationship of this "oculovertebral syndrome" to the "oculoauriculovertebral syndrome" is discussed. The combination of various malformations in our observation indicates an embryonic lesion between the 4th and 11th week. Additional polycystic brain damage was due to perinatal anoxy. The causal factor of the malformative syndrome remains unknown, but similar lesions were experimentally induced by fetal hypoxia.
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