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PubMed1979

[Goldenhar syndrome].

The basic features of Goldenhar syndrome are preauricular appendices, epibulbar dermoids, vertebral and cardiac anomalies, and hypoplasia of the lungs. The syndrome appears to be caused by early damage during the first or second month of embryonic development. Prognosis is most often determined by the underlying heart disease. In the present study a 24-year-old female student is reported who exhibited a preauricular appendix on the right side, severe thoracic scoliosis, aplasia of the middle and lower lobes of the right lung, dextropositio cordis and an atrial septal defect with severe pulmonary hypertension. Cineangiocardiography revealed a mitral valve prolapse with slight mitral regurgitation and a dilated right ventricle with severe tricuspid regurgitation. Left and right ventricular function was slightly to moderately reduced. Selective coronary arteriography revealed a coronary fistula from an atrial branch of the left coronary artery to the right atrium. Symptomatic therapy with digitalis, anticoagulation and repeated venesection was initiated because of the severe hemodynamic findings. However, the patient developed syncope at increasingly frequent intervals and died 3 months after the initial examination.

Adult↗
PubMed1995

Treacher Collins syndrome: otologic and auditory management.

Treacher Collins syndrome (TCS) is an autosomal dominant genetic disorder, the phenotypic expression of which is seen in the head and neck area. The syndrome has full penetrance but variable expressivity even among family members, and recent investigation has reported gene site on chromosome 5q. TCS has a reported prevalence of 1 in 50,000 live births with about 40 percent of new occurrences resulting from a positive family history and a 60 percent new mutation rate. The clinical features of TCS involve bilateral abnormalities of the pinnae, external auditory canal, tympanic membrane, and middle ear space. Microtia has been reported to be as high as 85 percent, with one third of patients presenting with stenosis or complete atresia. Treacher Collins patients present with maximum conductive hearing loss often compounded by a high-frequency sensory component. This article describes the otologic and audiologic diagnosis and management of TCS.

Adolescent↗
PubMed1975

Clinical and radiographic variations in hemifacial microsomia.

Variations expressed clinically and radiographically in hemifacial microsomia preclude classifying all the abnormalities as coming from the first and second branchial arches. Anatomic structures arising from the branchial arches are directly involved but the final expression results from the combined impact of the primary anatomic defect and the secondary effects on contiguous structures. The deformities resulting from the latter are probably due to abnormal neuromuscular function.

Abnormalities, Multiple↗
PubMed1994

[Modern imaging of maxillofacial deformities].

Facial malformations make a wide chapter of maxillofacial abnormalities whose treatment needs an accurate clinical-instrumental analysis to quantify malformation entity and to agree on precise lesion classification and subsequent management. Maxillofacial abnormalities are classified as congenital, growth-related and acquired. Congenital deformities include the alterations present at birth, i.e., craniofacial stenosis, oto-mandibular syndrome. Treacher-Collins and Goldenhar syndrome, facial clefts and lip-palate clefts. Growth-related malformations include the deformities appearing during growth and which are called maxillary dysmorphosis, e.g., hemimandibular hyperplasia, prognathism, maxillary hypoplasia, etc. Acquired malformations are those remaining after trauma or cancer surgery and those which are secondary to fibrous dysplasias of the craniofacial complex. May 1990 through May 1993, forty-two patients with different malformations were examined. The malformations secondary to cancer surgery were not included in our series. A radiologic study including conventional skull radiography, teleradiography and panoramic tomography had been performed for preliminary assessment before axial CT studies and 2D and 3D reconstructions. As for our series, in 20 patients coventional radiology was exhaustive to diagnose the disorder and to supply essential elements for treatment planning while axial CT and 3D reconstructions added no further piece of information. Only in the most complex malformations and in all cases of congenital malformations was axial CT needed to assess the type, extent and entity of the malformations allowing both the diagnosis and adequate surgical planning.

Adolescent↗
PubMed1994

[Treacher-Collin's syndrome and translaryngeal guided intubation--case report].

Treacher-Collin's (T-C) syndrome, a first-arch congenital defect, that often manifests with severe facial deformity. Though a rare condition, it offers challenges to an anesthesiologist especially during plastic surgical procedure. These challenges are: (1) difficulty in maintaining a patent airway and (2) difficulty in intubation during induction of general anesthesia. We would like to report a case using transtracheal passage of a retrograde guide wire into the oropharynx prior to laryngeal endotracheal intubation. The technique can, by no means, solve all airway problems. However, proper utilization of this technique may sometimes be life-saving.

Adult↗
PubMed1994

A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.

Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and cleft palate. Previous studies have localized the TCOF1 locus between D5S519 (proximal) and SPARC (distal), a region of 22 centirays as estimated by radiation hybrid mapping. In the current investigation we have created a contig across the TCOF1 critical region, using YAC clones. Isolation of a novel short tandem repeat polymorphism corresponding to the end of one of the YACs has allowed us to reduce the size of the critical region to approximately 840 kb, which has been covered with three nonchimeric YACs. Restriction mapping has revealed that the region contains a high density of clustered rare-cutter restriction sites, suggesting that it may contain a number of different genes. The results of the present investigation have further allowed us to confirm that the RPS14 locus lies proximal to the critical region and can thereby be excluded from a role in the pathogenesis of TCOF1, while ANX6 lies within the TCOF1 critical region and remains a potential candidate for the mutated gene.

Annexin A6↗
PubMed1994

Treacher Collins syndrome: correlation between clinical and genetic linkage studies.

Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development in which there is considerable variability in the clinical manifestations. The TCOF1 locus has previously been mapped to chromosome 5q32-33.2 and markers flanking the disease locus identified. In the current investigation we have analysed eight short tandem repeat polymorphisms for linkage to TCOF1 in a large family with multiple affected individuals. Linkage analysis suggested that TCOF1 in this family was linked to markers in the region 5q32-33.2. We have used the results to make diagnostic predictions in certain mildly affected and apparently unaffected individuals.

Chromosome Mapping↗
PubMed1975

[A case of Goldenhar syndrome: acute vitamin A intoxication in the mother during pregnancy].

The authors describe the case of a boy aged 2 1/2, who showed at birth a bilateral epibulbar dermoid, preauricular appendices on the left side and other malformations suggesting Goldenhar's syndrome. The history disclosed that in the second month of pregnancy the mother had accidentally swallowed 10 ml of an oily solution of Vitamin A during a laboratory manipulation. In their discussion, the autonrs analyse the teratogenic action of Vitamin A during embryonic development and review the aetiologies found in cases of Goldenhar's syndrome.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

[The role of 3D CT in the treatment of maxillofacial malformations].

The computed tomographic studies obtained routinely in the examination of patients with congenital defects of facial bones can be utilized as a substrate to provide an accurate three-dimensional representation of osseous abnormalities. It is a useful tool for the maxillo-facial surgeon in clinical application, in diagnosis, accurate measurements, preoperative planning and post-operative follow-up. The experience of the Division of Maxillo-Facial Surgery of Bellaria Hospital and of the Radiological Department of Instituto Rizzoli at Bologna is presented.

Adolescent↗
PubMedDate not supplied

[Congenital eyelid ptosis and dental anomalies in the Francheschetti syndrome].

The observation of an 11-years-old child is presented. He had bilateral congenital palpebral ptosis and multiple facial malformations, like maxillary and mandibular hypoplasia, dental malpositions, ogival palace, anomalies of the external ear, lesions determined by a latero-facial dechyscence (perforation 6, 7, 8). The affection was produced by a embryogenesis disturbance following the existence of two pathological genes. Their actions were overlapped during the 7--8 and 11 weeks of embryonic life, which caused damages in the maxillary and mandibular bones suture, which allow the formation of the inferior and middle stage of the face.

Abnormalities, Multiple↗
PubMed1993

Reconstruction of composite facial defects: the combined application of multiple reconstructive modalities.

OBJECTIVE: To describe the combined use of craniofacial skeletal reconstruction, tissue expansion and microvascular free tissue transfer in the repair of major composite facial defects. DESIGN: Case series with an integrated team approach. SETTING: Craniofacial unit, university teaching hospital. PATIENTS: Three cases were selected to best illustrate the combined use of the three modalities in reconstruction of acute traumatic, congenital and post-traumatic facial defects. A 15-year-old boy had a shotgun wound to the face; a 23-year-old man had Treacher Collins syndrome; and a 55-year-old woman had a post-traumatic composite defect of the central midface. INTERVENTIONS: Preoperatively, complete neurologic, ophthalmologic and dental examinations, anthropometric analysis, prosthodontic assessment, computed tomography and computer graphics. Operatively, craniofacial exposure followed established surgical principles. Skeletal reconstruction was performed to provide accurate positioning of bony segments and three-dimensional stability. Bone grafting was used when necessary to restore bony continuity and increase stability. Tissue expansion was used to provide more locally available tissue for wound closure and resurfacing composite defects. Microsurgical free tissue transfer was used to provide functional replacement of deficient tissues. RESULTS: The results of the modalities used for reconstruction of these composite facial defects are illustrated for each case described. CONCLUSIONS: The use of multiple modalities, including craniofacial skeletal reconstruction, tissue expansion and free tissue transfer, allow the surgeon to address the specific functional and anatomical requirements associated with composite facial defects that are characterized by a combined deficiency of multiple tissues in the craniofacial region.

Adolescent↗